Aicardi syndrome: Difference between revisions

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==Overview==
==Overview==
'''Aicardi syndrome''' is a rare [[congenital disorder|malformation]] characterized by the partial or total absence of the [[agenesis of the corpus callosum|corpus callosum]], the presence of [[retinal]] abnormalities, and [[seizures]] in the form of [[infantile spasms]]. [[Physical examination]] demonstrate [[microcephaly]], axial [[hypotonia]], and appendicular [[hypertonia]] with [[spasticity]]. Aicardi syndrome is an inherited [[X-linked dominant]] disorder trait that is [[incompatible]] with life in males.
'''Aicardi syndrome''' is a rare [[congenital disorder|malformation]] characterized by the partial or total absence of the [[agenesis of the corpus callosum|corpus callosum]], the presence of [[retinal]] abnormalities, and [[seizures]] in the form of [[infantile spasms]]. [[Physical examination]] demonstrate [[microcephaly]], axial [[hypotonia]], and appendicular [[hypertonia]] with [[spasticity]]. Aicardi syndrome is thought to be an inherited [[X-linked dominant]] disorder due to affection almost exclusively to females and boys with Klinefelter’s syndrome.


==Historical Perspective==
==Historical Perspective==


*In 1946, Krause described a 2-months old girl with [[Seizure|seizures]], [[mental retardation]], and [[microcephalus]] which later died from [[Pneumonia|pneumoni]]<nowiki/>a.<ref name="pmid21002031">{{cite journal |vauthors=KRAUSE AC |title=Congenital encephalo-ophthalmic dysplasia |journal=Arch Ophthal |volume=36 |issue=4 |pages=387–44 |date=October 1946 |pmid=21002031 |doi=10.1001/archopht.1946.00890210395001 |url=}}</ref>
*In 1946, Krause described a 2-months old girl with [[Seizure|seizures]], [[mental retardation]], and [[microcephalus]] which later died from [[Pneumonia|pneumoni]]<nowiki/>[[Pneumonia|a]].<ref name="pmid21002031">{{cite journal |vauthors=KRAUSE AC |title=Congenital encephalo-ophthalmic dysplasia |journal=Arch Ophthal |volume=36 |issue=4 |pages=387–44 |date=October 1946 |pmid=21002031 |doi=10.1001/archopht.1946.00890210395001 |url=}}</ref>
*In 1959, Klein described in an article called "The Pathogenesis of an Atypical Coloboma of the Choroid" an almost identical case of a 2-months old girls with same [[clinical]] and anatomopathologic findings as Krause.<ref name="pmid14409836">{{cite journal |vauthors=KLIEN BA |title=The pathogenesis of some atypical colobomas of the choroid |journal=Am. J. Ophthalmol. |volume=48 |issue= |pages=597–607 |date=November 1959 |pmid=14409836 |doi=10.1016/0002-9394(59)90450-7 |url=}}</ref>
*In 1959, Klein described in an article called "The Pathogenesis of an Atypical Coloboma of the Choroid" an almost identical case of a 2-months old girls with same [[clinical]] and anatomopathological findings as Krause.<ref name="pmid14409836">{{cite journal |vauthors=KLIEN BA |title=The pathogenesis of some atypical colobomas of the choroid |journal=Am. J. Ophthalmol. |volume=48 |issue= |pages=597–607 |date=November 1959 |pmid=14409836 |doi=10.1016/0002-9394(59)90450-7 |url=}}</ref>
*Aicardi syndrome was first fully described by the French [[neurologist]] Jean Aicardi in 1965 in his article "A new syndrome: Spasm in flexion, Callosal agenesis, Ocular abnormalities".<ref name="WongSutton2018">{{cite journal|last1=Wong|first1=Bibiana K. Y.|last2=Sutton|first2=V. Reid|title=Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|year=2018|issn=1552-4868|doi=10.1002/ajmg.c.31658}}</ref><ref name="urlwww.int-pediatrics.org">{{cite web |url=http://www.int-pediatrics.org/PDF/Volume%2014/14-1/aicardi.pdf |title=www.int-pediatrics.org |format= |work= |accessdate=}}</ref>
*Aicardi syndrome was first fully described by the French [[neurologist]] Jean Aicardi in 1965 in his article "A new syndrome: Spasm in flexion, Callosal agenesis, Ocular abnormalities".<ref name="WongSutton2018">{{cite journal|last1=Wong|first1=Bibiana K. Y.|last2=Sutton|first2=V. Reid|title=Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|year=2018|issn=1552-4868|doi=10.1002/ajmg.c.31658}}</ref><ref name="urlwww.int-pediatrics.org">{{cite web |url=http://www.int-pediatrics.org/PDF/Volume%2014/14-1/aicardi.pdf |title=www.int-pediatrics.org |format= |work= |accessdate=}}</ref>
*Historically, Aicardi syndrome was characterized by the triad of [[infantile spasms]], chorioretinal lacunae and [[agenesis]] of the [[corpus callosum]].<ref name="urlwww.int-pediatrics.org" />
*Historically, Aicardi syndrome was characterized by the triad of [[infantile spasms]], chorioretinal lacunae and [[agenesis]] of the [[corpus callosum]].<ref name="urlwww.int-pediatrics.org" />
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==Classification==
==Classification==


* There is no established system for classification of Aicardi syndrome..
*There is no established system for classification of Aicardi syndrome.


==Pathosphysiology==
==Pathosphysiology==
===Genetics===
===Genetics===
Almost all reported cases of Aicardi syndrome have been in females. The few males that have been identified with Aicardi syndrome have proved to have 47 chromosomes including an [[XXY]] sex chromosome complement, a condition called [[Klinefelter syndrome]].


Aicardi syndrome appears to be lethal in normal males who have only one [[X chromosome]] (and a [[Y chromosome]]). In other words, Aicardi syndrome appears to be inherited in an [[X-linked dominant]] pattern due to a mutant gene on the [[X chromosome]] that is lethal in XY males.
*The [[mutated]] [[gene]] in Aicardi syndrome has not been identified.<ref name="pmid20301555">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
*It is thought that Aicardi syndrome is caused by ''[[de novo]]'' [[mutations]] in [[X-chromosome]] that cause its inactivation. There are no reported cases of transmitted deflective [[X chromosome]]. <ref name="pmid12900577">{{cite journal |vauthors=Van den Veyver IB |title=Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders? |journal=Cytogenet. Genome Res. |volume=99 |issue=1-4 |pages=289–96 |date=2002 |pmid=12900577 |doi=10.1159/000071606 |url=}}</ref>
*Attempts to identify the [[mutated]] [[gene]] in Aicardi syndrome by  [[X-chromosome]] [[DNA microarrays]], comparative [[hybridization]], and [[genome sequencing]] have been unsuccessful.<ref name="pmid19760649">{{cite journal |vauthors=Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB |title=A genome-wide screen for copy number alterations in Aicardi syndrome |journal=Am. J. Med. Genet. A |volume=149A |issue=10 |pages=2113–21 |date=October 2009 |pmid=19760649 |pmc=3640635 |doi=10.1002/ajmg.a.32976 |url=}}</ref><ref name="pmid17625997">{{cite journal |vauthors=Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P |title=Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH |journal=Eur J Med Genet |volume=50 |issue=5 |pages=386–91 |date=2007 |pmid=17625997 |doi=10.1016/j.ejmg.2007.05.006 |url=}}</ref>
*Most of the cases, Aicardi syndrome appears to be [[lethal]] in [[males]] with only one [[X chromosome|X chromosome.]]<ref name="pmid20301555" />
*Rare cases of males with Aicardi syndrome have been reported, these present with a [[XXY trisomy|XXY]] [[karyotype]] ([[Klinefelter syndrome]]).<ref name="pmid19182158">{{cite journal |vauthors=Zubairi MS, Carter RF, Ronen GM |title=A male phenotype with Aicardi syndrome |journal=J. Child Neurol. |volume=24 |issue=2 |pages=204–7 |date=February 2009 |pmid=19182158 |doi=10.1177/0883073808322337 |url=}}</ref><ref name="pmid24657013">{{cite journal |vauthors=Shetty J, Fraser J, Goudie D, Kirkpatrick M |title=Aicardi syndrome in a 47 XXY male - a variable developmental phenotype? |journal=Eur. J. Paediatr. Neurol. |volume=18 |issue=4 |pages=529–31 |date=July 2014 |pmid=24657013 |doi=10.1016/j.ejpn.2014.03.004 |url=}}</ref> Cases with [[XY]] [[karyotype]] are thought to be caused by [[Mosaicism|mosaicisms]].<ref name="pmid19005990">{{cite journal |vauthors=Chappelow AV, Reid J, Parikh S, Traboulsi EI |title=Aicardi syndrome in a genotypic male |journal=Ophthalmic Genet. |volume=29 |issue=4 |pages=181–3 |date=December 2008 |pmid=19005990 |doi=10.1080/13816810802320209 |url=}}</ref><ref name="pmid19639527">{{cite journal |vauthors=Anderson S, Menten B, Kogelenberg Mv, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P |title=Aicardi syndrome in a male patient |journal=Neuropediatrics |volume=40 |issue=1 |pages=39–42 |date=February 2009 |pmid=19639527 |doi=10.1055/s-0029-1220760 |url=}}</ref>


All cases of Aicardi syndrome are thought to be due to new [[mutations]]. No person with Aicardi syndrome is known to have transmited the X-linked gene responsible for the syndrome to the next generation.
==Causes==


==Causes==
*The cause of Aicardi syndrome has not been identified. Due to almost exclusive involvement to [[females]], it is thought that causative [[mutation]] is located in [[X chromosome]], but this altered [[gene]] has not been identified.<ref name="urlAicardi Syndrome - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1381/ |title=Aicardi Syndrome - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref>


==Differentiating {{PAGENAME}} from Other Diseases==
==Differentiating {{PAGENAME}} from Other Diseases==
*Aicardi syndrome must be differentiated from other diseases, such as:
**[[Agenesis of the corpus callosum]]. Is a rare [[congenital]] (may be [[Inheritance|inherited]]) condition characterized by early onset of [[seizures]] since the first weeks of life, [[failure to thrive]], and or [[hydrocephalus]].<ref name="pmid11160959">{{cite journal |vauthors=Barkovich AJ, Simon EM, Walsh CA |title=Callosal agenesis with cyst: a better understanding and new classification |journal=Neurology |volume=56 |issue=2 |pages=220–7 |date=January 2001 |pmid=11160959 |doi=10.1212/wnl.56.2.220 |url=}}</ref> Aicardi syndrome may be composed by absence [[Agenesis of the corpus callosum|corpus callosum]], but not necessary all [[agenesis]] are Aicardi syndrome.<ref name="urlAgenesis of Corpus Callosum - NORD (National Organization for Rare Disorders)">{{cite web |url=https://rarediseases.org/rare-diseases/agenesis-of-corpus-callosum/#:~:text=Agenesis%20of%20corpus%20callosum%20(ACC,normally%20composed%20of%20transverse%20fibers. |title=Agenesis of Corpus Callosum - NORD (National Organization for Rare Disorders) |format= |work= |accessdate=}}</ref>
**[[Microcephaly]]. Is a [[congenital]] defect present in most of the cases of Aicardi syndrome, but may be as well an isolated condition.
**[[Neuronal migration disorders]]. Are congenital conditions that lead to development abnormalities in [[brain]] structure. These include [[lissencephaly]], [[Heterotopia (medicine)|heterotopia]], [[polymicrogyria]], [[focal cortical dysplasia]], and Aicardi syndrome.<ref name="GuerriniParrini2010">{{cite journal|last1=Guerrini|first1=Renzo|last2=Parrini|first2=Elena|title=Neuronal migration disorders|journal=Neurobiology of Disease|volume=38|issue=2|year=2010|pages=154–166|issn=09699961|doi=10.1016/j.nbd.2009.02.008}}</ref>
**Oculocerebrocutaneous syndrome (OCCS).<ref name="pmid15879499">{{cite journal |vauthors=Moog U, Jones MC, Bird LM, Dobyns WB |title=Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype |journal=J. Med. Genet. |volume=42 |issue=12 |pages=913–21 |date=December 2005 |pmid=15879499 |pmc=1735958 |doi=10.1136/jmg.2005.031369 |url=}}</ref>
**[[Infantile spasms]].


==Epidemiology and Demographics==
==Epidemiology and Demographics==
Around 500 cases of Aicardi syndrome have been reported worldwide. Except that the syndrome is fairly uncommon, its precise frequency in the population is unknown. Almost all reported cases of Aicardi syndrome have been in females.
 
*Aicardi syndrome is a very [[Rare disease|rare condition]]. A precise [[prevalence]] and [[incidence]] have not been calculated.
*Around 500 cases of Aicardi syndrome have been reported worldwide.
*The [[incidence]] of Aicardi syndrome has been estimated between 1:105,000 and 1:167,000 in the United States and between 1:93,000 and 1:99,000 in some European countries.<ref name="pmid181826432">{{cite journal |vauthors=Kroner BL, Preiss LR, Ardini MA, Gaillard WD |title=New incidence, prevalence, and survival of Aicardi syndrome from 408 cases |journal=J. Child Neurol. |volume=23 |issue=5 |pages=531–5 |date=May 2008 |pmid=18182643 |doi=10.1177/0883073807309782 |url=}}</ref><ref name="pmid203015554">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
 
*The [[prevalence]] of Aicardi syndrome in the United States has been calculated to be over 853 in the US and over 4,000 worldwide.<ref name="pmid181826432" /><ref name="pmid203015554" />
 
===Gender===
 
*Females are more commonly affected with Aicardi syndrome than [[males]].<ref name="pmid20301555" />
 
===Age[edit | edit source]===
 
*Aicardi syndrome is a [[congenital disorder]], but most cases are identified around 5 months of [[age]].
 
===Race[edit | edit source]===
 
*Apparently, there is no [[racial]] predilection for Aicardi syndrome.<ref name="urlAicardi Syndrome - NORD (National Organization for Rare Disorders)">{{cite web |url=https://rarediseases.org/rare-diseases/aicardi-syndrome/ |title=Aicardi Syndrome - NORD (National Organization for Rare Disorders) |format= |work= |accessdate=}}</ref>


==Risk Factors==
==Risk Factors==
*There are no recognized [[risk factors]] associated with Aicardi syndrome development.


==Screening==
==Screening==
*Since the vast majority of Aicardi syndrome cases are caused by ''[[de novo]]'' [[mutations]], there is no indication for [[screening]] in family members of an affected patient. There is only 1% chance that a sibling of an affected individual will have the [[disease]].
*[[Females]] with Aicardi syndrome have 50% of chances to transmit the affected [[allele]] to [[offspring]], while conceptuses in [[males]] are nonviable.
*Some features from Aicardi syndrome may be detected by [[prenatal]] [[ultrasound]].
*[[Molecular]] [[Genetic Disorders|genetic testing]] is not feasible due to the unawareness of the responsible [[gene]] [[mutation]].


==Natural History, Complications, Prognosis==
==Natural History, Complications, Prognosis==
Children are most commonly identified with Aicardi syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal [[brain development]].


Additional complications sometimes seen with Aicardi syndrome include [[porencephaly|porencephalic cyst]]s and [[hydrocephalus]], and gastro-intestinal problems.
*[[Prognosis]] for Aicardi syndrome is variable, with the [[mean]] age of death about 8.3 years and the median age of death about 18.5 years.<ref name="pmid20301555" /><ref name="pmid18182643">{{cite journal |vauthors=Kroner BL, Preiss LR, Ardini MA, Gaillard WD |title=New incidence, prevalence, and survival of Aicardi syndrome from 408 cases |journal=J. Child Neurol. |volume=23 |issue=5 |pages=531–5 |date=May 2008 |pmid=18182643 |doi=10.1177/0883073807309782 |url=}}</ref><ref name="pmid176214792">{{cite journal |vauthors=Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB |title=Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children |journal=J. Child Neurol. |volume=22 |issue=2 |pages=176–84 |date=February 2007 |pmid=17621479 |doi=10.1177/0883073807300298 |url=}}</ref>
*Most of affected [[females]] are apparently normal at [[birth]] and present [[infantile spasms]] around the age of 3 months.
*The majority of females with Aicardi syndrome develop [[seizures]] before age 1.<ref name="pmid203015555">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>


The [[prognosis]] varies widely from case to case. However, all individuals reported with Aicardi syndrome to date have experienced developmental delay of a significant degree, typically resulting in moderate to profound [[mental retardation]]. The age range of the individuals reported with Aicardi syndrome is from birth to the mid 40’s.  Aicardi syndrome appears to be lethal in normal males who have only one [[X chromosome]] (and a [[Y chromosome]]).
==Diagnosis==


==Diagnosis==
===Diagnostic Criteria===
Aicardi syndrome is characterized by the following triad of features:


#Partial or complete absence of the [[corpus callosum]] in the brain ([[agenesis of the corpus callosum]]);
*The [[diagnosis]] of Aicardi syndrome according to Sutton et al.<ref name="pmid16158440">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref> (modified from Aicardi 1999<ref name="urlwww.int-pediatrics.org2">{{cite web |url=http://www.int-pediatrics.org/PDF/Volume%2014/14-1/aicardi.pdf |title=www.int-pediatrics.org |format= |work= |accessdate=}}</ref>)is made by the presence of all 3 classic features or 2 classic features plus 2 major features; in addition there are supporting features that make [[diagnosis]] more reliable.<ref name="pmid203015552">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
#Eye abnormalities known as "lacunae" of the retina that are quite specific to this disorder; and
#The development in infancy of seizures that are called [[infantile spasms]].


Other types of defects of the brain such as [[microcephaly]], [[porencephaly|porencephalic cyst]]s and enlarged [[Ventricular_system|cerebral ventricle]]s due to [[hydrocephalus]] are also more common in Aicardi syndrome.
{| class="wikitable"
===Diagnostic Criteria===
|+Diagnosis of Aicardi syndrome
! rowspan="3" |Classic features
|[[Agenesis of the corpus callosum]]
|-
|[[Infantile spasms]]
|-
|Distinctive chorioretinal [[lacunae]]
|-
! rowspan="4" |Major features
|[[Cortex|Cortical]] [[malformations]]
|-
|Periventricular and [[subcortical]] [[Heterotopia (medicine)|heterotopia]]
|-
|[[Cysts]] around [[Cerebral ventricle|third cerebral ventricle]] and/or [[choroid plexus]]
|-
|[[Optic disc]]/nerve [[coloboma]] or [[hypoplasia]]
|-
! rowspan="5" |Supporting features
|[[Vertebral]] and [[rib]] abnormalities
|-
|[[Microphthalmia]]
|-
|"Split-brain" [[EEG]]
|-
|Gross [[Cerebral hemispheres|cerebral hemispheric]] asymmetry
|-
|[[Vascular malformations]] or [[vascular malignancy]]
|}


===History and Symptoms===
===History and Symptoms===
*Most of individuals with Aicardi syndrome are [[asymptomatic]], but [[symptoms]] may vary depending on clinical presentation.


===Physical Examination===
===Physical Examination===
*The following characteristics have been present among the reported cases of Aicardi syndrome, it should be noted that most of these features are not present and do not confirm the [[diagnostic criteria]]:
====Neurologic====
*[[Axial]] [[hypotonia]]<ref name="pmid15737696">{{cite journal |vauthors=Aicardi J |title=Aicardi syndrome |journal=Brain Dev. |volume=27 |issue=3 |pages=164–71 |date=April 2005 |pmid=15737696 |doi=10.1016/j.braindev.2003.11.011 |url=}}</ref>
*[[Appendicular]] [[hypertonia]] with [[spasticity]]<ref name="pmid15737696" />
*Brisk deep [[Tendon reflex|tendon reflexes]]<ref name="pmid15737696" />
*[[Hemiparesis]]
*With or without [[intellectual disability]]<ref name="pmid12915018">{{cite journal |vauthors=Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A |title=[Aicardi syndrome with favorable outcome] |language=French |journal=Arch Pediatr |volume=10 |issue=6 |pages=530–2 |date=June 2003 |pmid=12915018 |doi=10.1016/s0929-693x(03)00095-2 |url=}}</ref><ref name="pmid17207597">{{cite journal |vauthors=Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P |title=Aicardi syndrome with favorable outcome: case report and review |journal=Brain Dev. |volume=29 |issue=7 |pages=443–6 |date=August 2007 |pmid=17207597 |doi=10.1016/j.braindev.2006.11.011 |url=}}</ref>
*[[Nystagmus]]
====Ophthalmologic====
*Chorioretinal [[lacunae]]<ref name="pmid2773986">{{cite journal |vauthors=Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS |title=Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome |journal=Am. J. Med. Genet. |volume=32 |issue=4 |pages=461–7 |date=April 1989 |pmid=2773986 |doi=10.1002/ajmg.1320320405 |url=}}</ref><ref name="pmid16967367">{{cite journal |vauthors=Palmér L, Zetterlund B, Hård AL, Steneryd K, Kyllerman M |title=Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002 |journal=Neuropediatrics |volume=37 |issue=3 |pages=154–8 |date=June 2006 |pmid=16967367 |doi=10.1055/s-2006-924486 |url=}}</ref>
*Unilateral [[microphthalmia]]
*[[Optic nerve]] [[coloboma]]
*[[Retinal detachment|Detached retina]]
*[[Optic nerve]] [[dysplasia]] or [[hypoplasia]]
*Persistent [[fetal]] [[vasculature]]
====Craniofacial====
*[[Microcephaly]]
*Short [[philtrum]]
*Prominent [[premaxilla]]
*Large [[ears]]
*Sparse lateral [[eyebrows]]<ref name="pmid161584402">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref>
*[[Plagiocephaly]]
*[[Cleft lip and palate]]
'''Skeletal'''
*[[Costovertebral]] defects (hemivertebrae, block [[vertebrae]], fused [[vertebrae]], and missing [[ribs]])
*[[Scoliosis]]<ref name="pmid27739862">{{cite journal |vauthors=Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS |title=Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome |journal=Am. J. Med. Genet. |volume=32 |issue=4 |pages=461–7 |date=April 1989 |pmid=2773986 |doi=10.1002/ajmg.1320320405 |url=}}</ref>
*[[Hip dysplasia]]
'''Gastrointestinal'''
*[[Constipation]]
*[[Gastroesophageal reflux]]
*[[Diarrhea]]
*[[Feeding difficulties]]<ref name="pmid17621479">{{cite journal |vauthors=Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB |title=Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children |journal=J. Child Neurol. |volume=22 |issue=2 |pages=176–84 |date=February 2007 |pmid=17621479 |doi=10.1177/0883073807300298 |url=}}</ref>
'''Extremities'''
*Small [[hands]]<ref name="pmid161584403">{{cite journal |vauthors=Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB |title=Facial and physical features of Aicardi syndrome: infants to teenagers |journal=Am. J. Med. Genet. A |volume=138A |issue=3 |pages=254–8 |date=October 2005 |pmid=16158440 |doi=10.1002/ajmg.a.30963 |url=}}</ref>
'''Dermatologic'''
*[[Vascular malformations]]<ref name="pmid161584403" />
*Pigmentary lesions<ref name="pmid161584403" />
'''Tumors/malignancies'''
*[[Choroid plexus]] [[papillomas]]<ref name="pmid11124640">{{cite journal |vauthors=Taggard DA, Menezes AH |title=Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report |journal=Pediatr Neurosurg |volume=33 |issue=4 |pages=219–23 |date=October 2000 |pmid=11124640 |doi=10.1159/000055956 |url=}}</ref><ref name="pmid12563397">{{cite journal |vauthors=Pianetti Filho G, Fonseca LF, da Silva MC |title=Choroid plexus papilloma and Aicardi syndrome: case report |journal=Arq Neuropsiquiatr |volume=60 |issue=4 |pages=1008–10 |date=December 2002 |pmid=12563397 |doi=10.1590/s0004-282x2002000600023 |url=}}</ref>
*Also [[lipomas]], [[Angiosarcoma|angiosarcomas]], [[Hepatoblastoma|hepatoblastomas]], [[intestinal]] [[polyposis]], [[Embryonal carcinoma|embryonal]] [[carcinomas]],and large-cell [[medulloblastomas]] has been reported<ref name="pmid19610089">{{cite journal |vauthors=Kamien BA, Gabbett MT |title=Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration |journal=Am. J. Med. Genet. A |volume=149A |issue=8 |pages=1850–2 |date=August 2009 |pmid=19610089 |doi=10.1002/ajmg.a.32985 |url=}}</ref><ref name="pmid15534766">{{cite journal |vauthors=Palmér L, Nordborg C, Steneryd K, Aman P, Kyllerman M |title=Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review |journal=Neuropediatrics |volume=35 |issue=5 |pages=307–11 |date=October 2004 |pmid=15534766 |doi=10.1055/s-2004-821253 |url=}}</ref><ref name="pmid161584403" />
'''Endocrine'''
*[[Precocious puberty]]<ref name="pmid176214792" />
*[[Delayed puberty]]<ref name="pmid176214792" />


===Laboratory Findings===
===Laboratory Findings===


===Imaging Findings===
*There are no specific [[laboratory]] findings associated with Aicardi syndrome.
 
===EEG===
 
*[[EEG]] findings associated with Aicardi syndrome include asynchronous multifocal epileptiform defects with breach subduing and separation between the two hemispheres (split-brain).
 
===Electrocardiogram===
 
*There are no [[electrocardiogram]] findings associated with Aicardi syndrome.
 
===X-ray===
 
*[[X-rays|X-ray]] of the [[spine]] may reveal [[scoliosis]] and [[rib]] abnormalities.
 
===Echocardiography or Ultrasound===
 
*There are no characteristic [[echocardiography]]/[[ultrasound]] findings associated with Aicardi syndrome.
 
===CT scan===
 
*[[CT scan]] of the head in Aicardi syndrome reveals [[agenesis]] of the [[corpus callosum]].
*[[CT scan]] of the [[head]] in Aicardi syndrome may reveal [[Cortex|cortical]] [[malformations]], periventricular [[cysts]] around the [[third ventricle]], [[Choroid plexus|choroid plexu]]<nowiki/>s, and periventricular and subcortical [[Heterotopia (medicine)|heterotopia]], [[porencephaly|porencephalic cyst]]s, [[hydrocephalus]], and gross [[cerebral]] hemispheric asymmetry.
 
===MRI===
 
*[[MRI]] of the head in Aicardi syndrome reveals agenesis of the [[corpus callosum]].
*[[MRI]] of the [[head]] in Aicardi syndrome may reveal [[Cortex|cortical]] [[malformations]], periventricular [[cysts]] around the [[third ventricle]], [[choroid plexus]], periventricular and [[subcortical]] [[Heterotopia (medicine)|heterotopia]], [[porencephaly|porencephalic cyst]]s, [[hydrocephalus]], and gross cerebral hemispheric asymmetry.
 
===Other Imaging Findings===
 
*<br />There are no other [[imaging]] findings associated with Aicardi syndrome.


===Other Diagnostic Studies===
===Other Diagnostic Studies===
* <br />There are no other diagnostic studies associated with Aicardi syndrome.


==Treatment==
==Treatment==
Treatment of Aicardi syndrome primarily involves management of [[seizures]] and early/continuing intervention programs for developmental delays.
Additional complications sometimes seen with Aicardi syndrome include [[porencephaly|porencephalic cyst]]s and [[hydrocephalus]], and gastro-intestinal problems.  Treatment for prencephalic cysts and/or hydrocephalus is often via a [[cerebral shunt|shunt]] or [[endoscopic]] [[fenestration]] of the cysts, though some require no treatment. Placement of a [[feeding tube]], fundoplication, and surgeries to correct hernias or other gastrointestinal structural problems are sometimes used to treat gastro-intestinal issues.
===Medical Therapy===
===Medical Therapy===
*Tere is no [[treatment]] for Aicardi syndrome; the mainstay of [[therapy]] is supportive care.
*[[Antiepileptic]] [[medications]] are used to control these challenging episodes, although studies have demonstrated that no [[Antiepileptics|antiepileptic]] [[drug]] works for all cases of Aicardi syndrome and that many times it is necessary to use more than one type.<ref name="urlAicardi Syndrome - NORD (National Organization for Rare Disorders)" />
*Thre has been shown improvement with the use of [[vigabatrin]] and [[vagus nerve stimulation]].<ref name="pmid203015557">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
*[[Physiotherapy]], [[occupational therapy]], [[speech therapy]], and [[Vision therapy|ocular therapy]] should be started as soon as possible.<ref name="pmid203015557" />


===Surgery===
===Surgery===
*Corrective [[surgery]] may be performed in patients with severe [[scoliosis]].
*Patients with [[hydrocephalus]] have shown improvement with resection of large [[choroid plexus papillomas]] and [[shunt]] insertions.<ref name="pmid203015557" />


===Prevention===
===Prevention===
*There are no [[Primary prevention|primary preventive]] measures available for Aicardi syndrome.<ref name="pmid203015553">{{cite journal |vauthors=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB |title= |journal= |volume= |issue= |pages= |date= |pmid=20301555 |doi= |url=}}</ref>
*[[Secondary prevention|Secondary preventive]] measures include routine [[Dermatological|dermatologic]], [[gastrointestinal]], and [[orthopedic]] evaluations to monitor for [[malignancies]], [[gastrointestinal]] problems, and degree of [[scoliosis]] respectively.<ref name="pmid203015553" />


==Support Organizations==
==Support Organizations==

Latest revision as of 15:12, 4 October 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.


Overview

Aicardi syndrome is a rare malformation characterized by the partial or total absence of the corpus callosum, the presence of retinal abnormalities, and seizures in the form of infantile spasms. Physical examination demonstrate microcephaly, axial hypotonia, and appendicular hypertonia with spasticity. Aicardi syndrome is thought to be an inherited X-linked dominant disorder due to affection almost exclusively to females and boys with Klinefelter’s syndrome.

Historical Perspective

  • In 1946, Krause described a 2-months old girl with seizures, mental retardation, and microcephalus which later died from pneumonia.[1]
  • In 1959, Klein described in an article called "The Pathogenesis of an Atypical Coloboma of the Choroid" an almost identical case of a 2-months old girls with same clinical and anatomopathological findings as Krause.[2]
  • Aicardi syndrome was first fully described by the French neurologist Jean Aicardi in 1965 in his article "A new syndrome: Spasm in flexion, Callosal agenesis, Ocular abnormalities".[3][4]
  • Historically, Aicardi syndrome was characterized by the triad of infantile spasms, chorioretinal lacunae and agenesis of the corpus callosum.[4]

Classification

  • There is no established system for classification of Aicardi syndrome.

Pathosphysiology

Genetics

Causes

  • The cause of Aicardi syndrome has not been identified. Due to almost exclusive involvement to females, it is thought that causative mutation is located in X chromosome, but this altered gene has not been identified.[13]

Differentiating Aicardi syndrome from Other Diseases

Epidemiology and Demographics

  • Aicardi syndrome is a very rare condition. A precise prevalence and incidence have not been calculated.
  • Around 500 cases of Aicardi syndrome have been reported worldwide.
  • The incidence of Aicardi syndrome has been estimated between 1:105,000 and 1:167,000 in the United States and between 1:93,000 and 1:99,000 in some European countries.[18][19]
  • The prevalence of Aicardi syndrome in the United States has been calculated to be over 853 in the US and over 4,000 worldwide.[18][19]

Gender

  • Females are more commonly affected with Aicardi syndrome than males.[5]

Age[edit | edit source]

Race[edit | edit source]

  • Apparently, there is no racial predilection for Aicardi syndrome.[20]

Risk Factors

  • There are no recognized risk factors associated with Aicardi syndrome development.

Screening

Natural History, Complications, Prognosis

  • Prognosis for Aicardi syndrome is variable, with the mean age of death about 8.3 years and the median age of death about 18.5 years.[5][21][22]
  • Most of affected females are apparently normal at birth and present infantile spasms around the age of 3 months.
  • The majority of females with Aicardi syndrome develop seizures before age 1.[23]

Diagnosis

Diagnostic Criteria

  • The diagnosis of Aicardi syndrome according to Sutton et al.[24] (modified from Aicardi 1999[25])is made by the presence of all 3 classic features or 2 classic features plus 2 major features; in addition there are supporting features that make diagnosis more reliable.[26]
Diagnosis of Aicardi syndrome
Classic features Agenesis of the corpus callosum
Infantile spasms
Distinctive chorioretinal lacunae
Major features Cortical malformations
Periventricular and subcortical heterotopia
Cysts around third cerebral ventricle and/or choroid plexus
Optic disc/nerve coloboma or hypoplasia
Supporting features Vertebral and rib abnormalities
Microphthalmia
"Split-brain" EEG
Gross cerebral hemispheric asymmetry
Vascular malformations or vascular malignancy

History and Symptoms

  • Most of individuals with Aicardi syndrome are asymptomatic, but symptoms may vary depending on clinical presentation.

Physical Examination

  • The following characteristics have been present among the reported cases of Aicardi syndrome, it should be noted that most of these features are not present and do not confirm the diagnostic criteria:

Neurologic

Ophthalmologic

Craniofacial

Skeletal

Gastrointestinal

Extremities

Dermatologic

Tumors/malignancies

Endocrine

Laboratory Findings

  • There are no specific laboratory findings associated with Aicardi syndrome.

EEG

  • EEG findings associated with Aicardi syndrome include asynchronous multifocal epileptiform defects with breach subduing and separation between the two hemispheres (split-brain).

Electrocardiogram

X-ray

Echocardiography or Ultrasound

CT scan

MRI

Other Imaging Findings


  • There are no other imaging findings associated with Aicardi syndrome.

Other Diagnostic Studies


  • There are no other diagnostic studies associated with Aicardi syndrome.

Treatment

Medical Therapy

Surgery

Prevention

Support Organizations

Aicardi Syndrome Foundation Support and information for families caring for children with Aicardi Syndrome.
A.A.L Syndrome d'Aicardi
Sindrome di Aicardi

References

  1. ↑ KRAUSE AC (October 1946). "Congenital encephalo-ophthalmic dysplasia". Arch Ophthal. 36 (4): 387–44. doi:10.1001/archopht.1946.00890210395001. PMID 21002031.
  2. ↑ KLIEN BA (November 1959). "The pathogenesis of some atypical colobomas of the choroid". Am. J. Ophthalmol. 48: 597–607. doi:10.1016/0002-9394(59)90450-7. PMID 14409836.
  3. ↑ Wong, Bibiana K. Y.; Sutton, V. Reid (2018). "Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. doi:10.1002/ajmg.c.31658. ISSN 1552-4868.
  4. ↑ 4.0 4.1 "www.int-pediatrics.org" (PDF).
  5. ↑ 5.0 5.1 5.2 5.3 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  6. ↑ Van den Veyver IB (2002). "Microphthalmia with linear skin defects (MLS), Aicardi, and Goltz syndromes: are they related X-linked dominant male-lethal disorders?". Cytogenet. Genome Res. 99 (1–4): 289–96. doi:10.1159/000071606. PMID 12900577.
  7. ↑ Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB (October 2009). "A genome-wide screen for copy number alterations in Aicardi syndrome". Am. J. Med. Genet. A. 149A (10): 2113–21. doi:10.1002/ajmg.a.32976. PMC 3640635. PMID 19760649.
  8. ↑ Yilmaz S, Fontaine H, Brochet K, Grégoire MJ, Devignes MD, Schaff JL, Philippe C, Nemos C, McGregor JL, Jonveaux P (2007). "Screening of subtle copy number changes in Aicardi syndrome patients with a high resolution X chromosome array-CGH". Eur J Med Genet. 50 (5): 386–91. doi:10.1016/j.ejmg.2007.05.006. PMID 17625997.
  9. ↑ Zubairi MS, Carter RF, Ronen GM (February 2009). "A male phenotype with Aicardi syndrome". J. Child Neurol. 24 (2): 204–7. doi:10.1177/0883073808322337. PMID 19182158.
  10. ↑ Shetty J, Fraser J, Goudie D, Kirkpatrick M (July 2014). "Aicardi syndrome in a 47 XXY male - a variable developmental phenotype?". Eur. J. Paediatr. Neurol. 18 (4): 529–31. doi:10.1016/j.ejpn.2014.03.004. PMID 24657013.
  11. ↑ Chappelow AV, Reid J, Parikh S, Traboulsi EI (December 2008). "Aicardi syndrome in a genotypic male". Ophthalmic Genet. 29 (4): 181–3. doi:10.1080/13816810802320209. PMID 19005990.
  12. ↑ Anderson S, Menten B, Kogelenberg M, Robertson S, Waginger M, Mentzel HJ, Brandl U, Skirl G, Willems P (February 2009). "Aicardi syndrome in a male patient". Neuropediatrics. 40 (1): 39–42. doi:10.1055/s-0029-1220760. PMID 19639527. Vancouver style error: initials (help)
  13. ↑ "Aicardi Syndrome - GeneReviews® - NCBI Bookshelf".
  14. ↑ Barkovich AJ, Simon EM, Walsh CA (January 2001). "Callosal agenesis with cyst: a better understanding and new classification". Neurology. 56 (2): 220–7. doi:10.1212/wnl.56.2.220. PMID 11160959.
  15. ↑ "Agenesis of Corpus Callosum - NORD (National Organization for Rare Disorders)".
  16. ↑ Guerrini, Renzo; Parrini, Elena (2010). "Neuronal migration disorders". Neurobiology of Disease. 38 (2): 154–166. doi:10.1016/j.nbd.2009.02.008. ISSN 0969-9961.
  17. ↑ Moog U, Jones MC, Bird LM, Dobyns WB (December 2005). "Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype". J. Med. Genet. 42 (12): 913–21. doi:10.1136/jmg.2005.031369. PMC 1735958. PMID 15879499.
  18. ↑ 18.0 18.1 Kroner BL, Preiss LR, Ardini MA, Gaillard WD (May 2008). "New incidence, prevalence, and survival of Aicardi syndrome from 408 cases". J. Child Neurol. 23 (5): 531–5. doi:10.1177/0883073807309782. PMID 18182643.
  19. ↑ 19.0 19.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  20. ↑ 20.0 20.1 "Aicardi Syndrome - NORD (National Organization for Rare Disorders)".
  21. ↑ Kroner BL, Preiss LR, Ardini MA, Gaillard WD (May 2008). "New incidence, prevalence, and survival of Aicardi syndrome from 408 cases". J. Child Neurol. 23 (5): 531–5. doi:10.1177/0883073807309782. PMID 18182643.
  22. ↑ 22.0 22.1 22.2 Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB (February 2007). "Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children". J. Child Neurol. 22 (2): 176–84. doi:10.1177/0883073807300298. PMID 17621479.
  23. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  24. ↑ Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
  25. ↑ "www.int-pediatrics.org" (PDF).
  26. ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  27. ↑ 27.0 27.1 27.2 Aicardi J (April 2005). "Aicardi syndrome". Brain Dev. 27 (3): 164–71. doi:10.1016/j.braindev.2003.11.011. PMID 15737696.
  28. ↑ Yacoub M, Missaoui N, Tabarli B, Ghorbel M, Tlili K, Selmi H, Essoussi A (June 2003). "[Aicardi syndrome with favorable outcome]". Arch Pediatr (in French). 10 (6): 530–2. doi:10.1016/s0929-693x(03)00095-2. PMID 12915018.
  29. ↑ Grosso S, Lasorella G, Russo A, Galluzzi P, Morgese G, Balestri P (August 2007). "Aicardi syndrome with favorable outcome: case report and review". Brain Dev. 29 (7): 443–6. doi:10.1016/j.braindev.2006.11.011. PMID 17207597.
  30. ↑ Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.
  31. ↑ Palmér L, Zetterlund B, Hård AL, Steneryd K, Kyllerman M (June 2006). "Aicardi syndrome: presentation at onset in Swedish children born in 1975-2002". Neuropediatrics. 37 (3): 154–8. doi:10.1055/s-2006-924486. PMID 16967367.
  32. ↑ Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
  33. ↑ Donnenfeld AE, Packer RJ, Zackai EH, Chee CM, Sellinger B, Emanuel BS (April 1989). "Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome". Am. J. Med. Genet. 32 (4): 461–7. doi:10.1002/ajmg.1320320405. PMID 2773986.
  34. ↑ Glasmacher MA, Sutton VR, Hopkins B, Eble T, Lewis RA, Park Parsons D, Van den Veyver IB (February 2007). "Phenotype and management of Aicardi syndrome: new findings from a survey of 69 children". J. Child Neurol. 22 (2): 176–84. doi:10.1177/0883073807300298. PMID 17621479.
  35. ↑ 35.0 35.1 35.2 35.3 Sutton VR, Hopkins BJ, Eble TN, Gambhir N, Lewis RA, Van den Veyver IB (October 2005). "Facial and physical features of Aicardi syndrome: infants to teenagers". Am. J. Med. Genet. A. 138A (3): 254–8. doi:10.1002/ajmg.a.30963. PMID 16158440.
  36. ↑ Taggard DA, Menezes AH (October 2000). "Three choroid plexus papillomas in a patient with Aicardi syndrome. A case report". Pediatr Neurosurg. 33 (4): 219–23. doi:10.1159/000055956. PMID 11124640.
  37. ↑ Pianetti Filho G, Fonseca LF, da Silva MC (December 2002). "Choroid plexus papilloma and Aicardi syndrome: case report". Arq Neuropsiquiatr. 60 (4): 1008–10. doi:10.1590/s0004-282x2002000600023. PMID 12563397.
  38. ↑ Kamien BA, Gabbett MT (August 2009). "Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration". Am. J. Med. Genet. A. 149A (8): 1850–2. doi:10.1002/ajmg.a.32985. PMID 19610089.
  39. ↑ Palmér L, Nordborg C, Steneryd K, Aman P, Kyllerman M (October 2004). "Large-cell medulloblastoma in Aicardi syndrome. Case report and literature review". Neuropediatrics. 35 (5): 307–11. doi:10.1055/s-2004-821253. PMID 15534766.
  40. ↑ 40.0 40.1 40.2 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)
  41. ↑ 41.0 41.1 Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Sutton VR, Van den Veyver IB. PMID 20301555. Vancouver style error: initials (help); Missing or empty |title= (help)

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