Adams–Oliver syndrome: Difference between revisions

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{{SI}}                                                                 
{{SI}}                                                                 
{{CMG}} Ass'''ociate Editor-in-Chief''': {{EdzelCo}}
{{CMG}} Associate Editor-in-Chief''': {{EdzelCo}}
 
{{SK}} [[AOS]], [[congenital scalp defects]] with [[distal limb anomalies]]
 




==Overview==
==Overview==
[[Adams-Oliver syndrome]] [[(AOS)]] is an [[autosomal dominant]] [[disorder]] which involves the [[mutation]] of six [[genes]], namely the [[ARHGAP31]], [[DLL4]], [[DOCK6]], [[EOGT]], [[NOTCH1]], and [[RBPJ]] [[genes]]. <ref name="pmid28160419">{{cite journal| author=Hassed S, Li S, Mulvihill J, Aston C, Palmer S| title=Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. | journal=Am J Med Genet A | year= 2017 | volume= 173 | issue= 3 | pages= 790-800 | pmid=28160419 | doi=10.1002/ajmg.a.37889 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28160419  }} </ref> This [[disorder]] has an [[incidence]] of 44 per 10 million. [[Patients]] who have this condition typically present with some [[cardiovascular defects]], [[terminal transverse limb defects]], [[neurologic findings]], [[growth deficiency]], [[accessory nipples]], [[cryptorchidism]], [[renal abnormalities]], [[aplasia cutis congenita]] ([[ACC]]), and [[Poland sequence]]. <ref name="pmidhttps://www.ncbi.nlm.nih.gov/books/NBK355754/">{{cite journal| author=Lacoste J, Bertrand A, Karcher G, Martin J| title=[Dynamic and topographic measurement of lung gas exchange by means of intravenous Xenon 133 and illustrated with the aid of a computer]. | journal=Lille Med | year= 1978 | volume= 23 | issue= 6 | pages= 406-11 | pmid=https://www.ncbi.nlm.nih.gov/books/NBK355754/ | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=355754  }} </ref>
[[Adams-Oliver syndrome]] [[(AOS)]] is an [[autosomal dominant]] [[disorder]] which involves the [[mutation]] of six [[genes]], namely the [[ARHGAP31]], [[DLL4]], [[DOCK6]], [[EOGT]], [[NOTCH1]], and [[RBPJ]] [[genes]]. <ref name="pmid28160419">{{cite journal| author=Hassed S, Li S, Mulvihill J, Aston C, Palmer S| title=Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. | journal=Am J Med Genet A | year= 2017 | volume= 173 | issue= 3 | pages= 790-800 | pmid=28160419 | doi=10.1002/ajmg.a.37889 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28160419  }} </ref> This [[disorder]] has an [[incidence]] of 1 in 225,000 births. [[Patients]] who have this condition typically present with some [[cardiovascular defects]], [[terminal transverse limb defects]] ([[TTLD]]), [[neurologic findings]], [[growth deficiency]], [[accessory nipples]], [[cryptorchidism]], [[renal abnormalities]], [[aplasia cutis congenita]] ([[ACC]]), and [[Poland sequence]]. <ref name="pmidhttps://www.ncbi.nlm.nih.gov/books/NBK355754/">{{cite journal| author=Lacoste J, Bertrand A, Karcher G, Martin J| title=[Dynamic and topographic measurement of lung gas exchange by means of intravenous Xenon 133 and illustrated with the aid of a computer]. | journal=Lille Med | year= 1978 | volume= 23 | issue= 6 | pages= 406-11 | pmid=https://www.ncbi.nlm.nih.gov/books/NBK355754/ | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=355754  }} </ref>


==Historical Perspective==
==Historical Perspective==
*[[Adams-Oliver syndrome]] was first discovered by [scientist name], a [nationality + occupation], in [year] during/following [event].
*[[Adams-Oliver syndrome]] was first described by American [[pediatric cardiologist]] Forrest H. Adams and Charles P. Oliver, a [[clinical]] [[geneticist]], in 1945 after they had identified presence of [[terminal transverse defects of the limbs]] and [[aplasia cutis congenita]] of [[scalp]] in eight members of a three-generation family <ref name="pmid35449659">{{cite journal| author=Rashid S, Azeem S, Riaz S| title=Adams-Oliver Syndrome: A Rare Congenital Disorder. | journal=Cureus | year= 2022 | volume= 14 | issue= 3 | pages= e23297 | pmid=35449659 | doi=10.7759/cureus.23297 | pmc=9012592 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=35449659  }} </ref>. 
*In [year], [gene] mutations were first identified in the pathogenesis of [disease name].
*This condition is associated with genetic mutations in [[DLL4]], [[ARHGAP31]], [[NOTCH1]] and [[RBPJ]] leading to an [[autosomal dominant]] with [[variable penetrance]] expression, and [[EOGT]] and [[DOCK6]] [[mutations]] causing [[autosomal recessive]] expression <ref name="pmid23522784">{{cite journal| author=Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K | display-authors=etal| title=Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. | journal=Am J Hum Genet | year= 2013 | volume= 92 | issue= 4 | pages= 598-604 | pmid=23522784 | doi=10.1016/j.ajhg.2013.02.012 | pmc=3617382 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23522784  }} </ref> <ref name="pmid22883147">{{cite journal| author=Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W | display-authors=etal| title=RBPJ mutations identified in two families affected by Adams-Oliver syndrome. | journal=Am J Hum Genet | year= 2012 | volume= 91 | issue= 2 | pages= 391-5 | pmid=22883147 | doi=10.1016/j.ajhg.2012.07.005 | pmc=3415535 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22883147  }} </ref> <ref name="pmid21820096">{{cite journal| author=Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE | display-authors=etal| title=Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. | journal=Am J Hum Genet | year= 2011 | volume= 89 | issue= 2 | pages= 328-33 | pmid=21820096 | doi=10.1016/j.ajhg.2011.07.009 | pmc=3155174 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21820096  }} </ref> <ref name="pmid21565291">{{cite journal| author=Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM | display-authors=etal| title=Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies. | journal=Am J Hum Genet | year= 2011 | volume= 88 | issue= 5 | pages= 574-85 | pmid=21565291 | doi=10.1016/j.ajhg.2011.04.013 | pmc=3146732 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21565291  }} </ref> <ref name="pmid25132448">{{cite journal| author=Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H | display-authors=etal| title=Mutations in NOTCH1 cause Adams-Oliver syndrome. | journal=Am J Hum Genet | year= 2014 | volume= 95 | issue= 3 | pages= 275-84 | pmid=25132448 | doi=10.1016/j.ajhg.2014.07.011 | pmc=4157158 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25132448  }} </ref> <ref name="pmid26299364">{{cite journal| author=Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N | display-authors=etal| title=Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. | journal=Am J Hum Genet | year= 2015 | volume= 97 | issue= 3 | pages= 475-82 | pmid=26299364 | doi=10.1016/j.ajhg.2015.07.015 | pmc=4564989 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26299364  }} </ref>.
*In [year], the first [discovery] was developed by [scientist] to treat/diagnose [disease name].
*[[Congenital]] [[vasculopathy]] is believed to be the underlying mechanism in the [[pathogenesis]]of [[AOS]] <ref name="pmid9916843">{{cite journal| author=Swartz EN, Sanatani S, Sandor GG, Schreiber RA| title=Vascular abnormalities in Adams-Oliver syndrome: cause or effect? | journal=Am J Med Genet | year= 1999 | volume= 82 | issue= 1 | pages= 49-52 | pmid=9916843 | doi=10.1002/(sici)1096-8628(19990101)82:1<49::aid-ajmg10>3.0.co;2-m | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9916843  }} </ref>.
 
==Classification==
==Classification==
*[[Adams-Oliver syndrome]] may be classified according to [classification method] into [number] subtypes/groups:
*[[Adams-Oliver syndrome]] may be classified into five groups according to [[American College of Medical Genetics]] ([[ACMG]]) guidelines:
:*[group1]
:*[[Pathogenic]]
:*[group2]
:*[[Likely pathogenic]]
:*[group3]
:*[[Uncertain significance]]
*Other variants of [[Adams-Oliver syndrome]] include [disease subtype 1], [disease subtype 2], and [disease subtype 3].
:*[[Likely benign]]
:*[[Benign]] <ref name="pmid25741868">{{cite journal| author=Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J | display-authors=etal| title=Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. | journal=Genet Med | year= 2015 | volume= 17 | issue= 5 | pages= 405-24 | pmid=25741868 | doi=10.1038/gim.2015.30 | pmc=4544753 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25741868  }} </ref>.
*[[AOS]] can also be classified into six types according to location of [[mutation]] and [[mode of inheritance]]. These are:
 
{| style="border: 0px; font-size: 90%; margin: 1px; width: " align="center" 500px;"
| valign="top" |
|
|+<big>''' Table 1.Classification of [[Adams-Oliver syndrome]].'''</big>  <ref> https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) &#124; Syndromes: Rapid Recognition and Perioperative Implications, 2e &#124; AccessPediatrics &#124; McGraw Hill Medical </ref>.
! align="center" style="background: #00CED1; width: 200px;" |{{fontcolor|#FFF|Type}}
! align="center" style="background: #00CED1; width: 200px;" |{{fontcolor|#FFF|[[Inheritance]]}}
! align="center" style="background: #00CED1; width: 120px;" |{{fontcolor|#FFF|[[Location]]}}
|-
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 1]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[3q13.32-q13.33]]
|-
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 2]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[19p13.2]]
|-
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 3]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[4p15.2]]
|-
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 4]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[Autosomal recessive]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[3p14.1]]
|-
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 5]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[9q34.3]]
|-
| align="center" style="padding: 5px 5px; background: #E6E6FA; font-weight: bold" |[[Adams-Oliver syndrome 1]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[Autosomal dominant]]
| style="padding: 5px 5px; background: #F5F5F5;" |[[15q15.1]]
|}
 
==Pathophysiology==
==Pathophysiology==
*The pathogenesis of [[Adams-Oliver Syndrome]] is characterized by [feature1], [feature2], and [feature3].
*The pathogenesis of [[Adams-Oliver syndrome]] still remains unidentified.
*The [gene name] gene/Mutation in [gene name] has been associated with the development of [disease name], involving the [molecular pathway] pathway.
*However, several mechanisms of this disease have been proposed, which includes:
*On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
**Compromise of the [[vasculature]] such as [[congenital]], [[developmental defects]], [[pericyte]] recruitment to [[vessel]] abnormalities, or [[blood supply]] interruption in the early [[embryonic]] stages <ref> https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) &#124; Syndromes: Rapid Recognition and Perioperative Implications, 2e &#124; AccessPediatrics &#124; McGraw Hill Medical </ref>
*On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
**[[Genetic]] factors
**[[Trauma]]
**[[Teratogens]] ([[carbimazole]], [[misoprostol]], [[valproic acid]], and [[methimazole]] <ref name="pmid24697559">{{cite journal| author=Zakanj Z, Bedek D, Kotrulja L, Ozanic Bulic S| title=Adams-Oliver syndrome in a newborn infant. | journal=Int J Dermatol | year= 2016 | volume= 55 | issue= 2 | pages= 215-7 | pmid=24697559 | doi=10.1111/ijd.12469 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24697559  }} </ref>.


==Causes==
==Causes==
Disease name] may be caused by [cause1], [cause2], or [cause3].
* [[AOS]] is believed to be caused by [[genetic mutations]] with symptoms vary depending on the involved [[gene]].
 
OR


Common causes of [[Adams-Oliver Syndrome]] include [cause1], [cause2], and [cause3].
OR
The most common cause of [[Adams-Oliver Syndrome]] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [[Adams-Oliver Syndrome]] has not been identified. To review risk factors for the development of [disease name], click [[Pericarditis causes#Overview|here]].
==Differentiating Adams-Oliver syndrome from other Diseases==
==Differentiating Adams-Oliver syndrome from other Diseases==
*[[Adams-Oliver syndrome]] must be differentiated from other [[diseases]] that cause [[syndromic aplasia cutis congenita]], and [[terminal transverse limb defect]], such as:
*[[Adams-Oliver syndrome]] must be differentiated from other [[diseases]] that cause [[syndromic aplasia cutis congenita]], and [[terminal transverse limb defect]], such as:
Line 47: Line 76:


==Epidemiology and Demographics==
==Epidemiology and Demographics==
* This [[disorder]] has an [[incidence]] of 44 per 10 million. <ref name="pmidhttps://www.ncbi.nlm.nih.gov/books/NBK355754/">{{cite journal| author=Lacoste J, Bertrand A, Karcher G, Martin J| title=[Dynamic and topographic measurement of lung gas exchange by means of intravenous Xenon 133 and illustrated with the aid of a computer]. | journal=Lille Med | year= 1978 | volume= 23 | issue= 6 | pages= 406-11 | pmid=https://www.ncbi.nlm.nih.gov/books/NBK355754/ | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=355754 }} </ref>
* This [[disorder]] has an [[incidence]] of 1 in 225,000 births.<ref name="pmid29387678">{{cite journal| author=Saeidi M, Ehsanipoor F| title=A Case of Adams-Oliver Syndrome. | journal=Adv Biomed Res | year= 2017 | volume= 6 | issue= | pages= 167 | pmid=29387678 | doi=10.4103/2277-9175.221861 | pmc=5767801 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29387678 }} </ref>
* In [year], the incidence of [disease name] was estimated to be [number or range] cases per 100,000 individuals in [location].
===Age===
===Age===
*Patients of all age groups may develop [disease name].
*[[AOS]] is already present at [[birth]] <ref> MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2015 Nov 1]. Adams-Oliver syndrome; [updated 2015 Nov 1; [about 5 p.]. Available from: https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/ </ref>.
 
*[[Adams-Oliver Syndrome]] is more commonly observed among patients aged [age range] years old.
*[[Adams-Oliver Syndrome]] is more commonly observed among [elderly patients/young patients/children].
===Gender===
===Gender===
*[[Adams-Oliver Syndrome]] affects men and women equally.
*[[AOS]] affects men and women equally <ref name="pmid24697559">{{cite journal| author=Zakanj Z, Bedek D, Kotrulja L, Ozanic Bulic S| title=Adams-Oliver syndrome in a newborn infant. | journal=Int J Dermatol | year= 2016 | volume= 55 | issue= 2 | pages= 215-7 | pmid=24697559 | doi=10.1111/ijd.12469 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24697559  }} </ref>..
 
*[Gender 1] are more commonly affected with [[Adams-Oliver Syndrome]]than [gender 2].
* The [gender 1] to [Gender 2] ratio is approximately [number > 1] to 1.
===Race===
===Race===
*There is no racial predilection for [disease name].
*There is no racial predilection for [[AOS]] <ref name="pmid24697559">{{cite journal| author=Zakanj Z, Bedek D, Kotrulja L, Ozanic Bulic S| title=Adams-Oliver syndrome in a newborn infant. | journal=Int J Dermatol | year= 2016 | volume= 55 | issue= 2 | pages= 215-7 | pmid=24697559 | doi=10.1111/ijd.12469 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24697559  }} </ref>.
*[Disease name] usually affects individuals of the [race 1] race.
*[Race 2] individuals are less likely to develop [disease name].


==Risk Factors==
==Risk Factors==
*Common risk factors in the development of [disease name] are [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].
*[[Risk factors]] associated in the development of [[AOS]] include having a [[family history]] of [[AOS]] and being born to parents with [[consanguineous marriage]] <ref name="pmid22514587">{{cite journal| author=Bakry O, Attia A, El Shafey EN| title=Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. | journal=J Dermatol Case Rep | year= 2012 | volume= 6 | issue= 1 | pages= 25-8 | pmid=22514587 | doi=10.3315/jdcr.2012.1092 | pmc=3322107 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=22514587  }} </ref>.


== Natural History, Complications and Prognosis==
== Natural History, Complications and Prognosis==
*The majority of patients with [[Adams-Oliver Syndrome]] remain asymptomatic for [duration/years].
*Early [[clinical]] features include [[congenital scalp defects]] and [[terminal transverse limb defect]].
*Early clinical features include [manifestation 1], [manifestation 2], and [manifestation 3].
*If left untreated, patients with [[AOS]] may progress to develop some complications which include [[facial]] [[meningitis]], [[hemorrhage]], [[thrombosis]], and [[cerebrospinal fluid]] ([[CSF]]) leak.
*If left untreated, [#%] of patients with [[Adams-Oliver Syndrome]] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].
*If left untreated, it may lead to a long-term [[disability]].
*Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].
*[[Prognosis]] is generally excellent and can have a normal [[life span]] if no major [[organs]] are involved <ref name="pmid27433307">{{cite journal| author=Dehdashtian A, Dehdashtian M| title=Adams-Oliver Syndrome: A Case with Full Expression. | journal=Pediatr Rep | year= 2016 | volume= 8 | issue= 2 | pages= 6517 | pmid=27433307 | doi=10.4081/pr.2016.6517 | pmc=4933813 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27433307  }} </ref> <ref name="pmid35449659'">{{cite journal| author=Rashid S, Azeem S, Riaz S| title=Adams-Oliver Syndrome: A Rare Congenital Disorder. | journal=Cureus | year= 2022 | volume= 14 | issue= 3 | pages= e23297 | pmid=35449659' | doi=10.7759/cureus.23297 | pmc=9012592 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=35449659  }} </ref>.
*Prognosis is generally [excellent/good/poor], and the [1/5/10­year mortality/survival rate] of patients with [disease name] is approximately [#%].


== Diagnosis ==
== Diagnosis ==
===Diagnostic Criteria===
===Diagnostic Criteria===
*The diagnosis of [[Adams-Oliver Syndrome]] is made when at least [number] of the following [number] diagnostic criteria are met:
*The diagnosis of [[AOS]] is made when at least one of the following [[diagnostic criteria]] are met in a [[proband]]:
:*[criterion 1]
:*Present of [[TTLD]] and [[ACC]] of the [[scalp]]
:*[criterion 2]
:*[[TTLD]] or [[ACC]] and a [[first-degree relative]] manifesting with similar conditions suggestive of [[AOS]]
:*[criterion 3]
:*[[TTLD]] or [[ACC]] and the presence of either one [[pathogenic variant]] in the [[autosomal dominant]] [[AOS]]-associated [[gene]] ([[DLL4]], [[ARHGAP31]], [[RBPJ]], or [[NOTCH1]]), or two [[pathogenic variants]] in the [[autosomal recessive]] [[AOS]]-associated [[gene]] ([[EOGT]] or [[DOCK6]]) <ref> Lehman A, Wuyts W, Patel MS. Adams-Oliver Syndrome. 2016 Apr 14. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.https://www.ncbi.nlm.nih.gov/books/NBK355754/ Adams-Oliver Syndrome - GeneReviews® - NCBI Bookshelf |</ref>
:*[criterion 4]
 
=== History and Symptoms ===
=== History and Symptoms ===
*[[Adams-Oliver Syndrome]] is usually asymptomatic.
*[[AOS]] is usually asymptomatic.
*Symptoms of [disease name] may include the following:
 
:*[symptom 1]
:*[symptom 2]
:*[symptom 3]
:*[symptom 4]
:*[symptom 5]
:*[symptom 6]
=== Physical Examination ===
=== Physical Examination ===
*Patients with [disease name] usually appear [general appearance].
*Patients with [[AOS]] may be remarkable for:
*Physical examination may be remarkable for:
:*[[Congenital]] [[scalp]] defects
:*[finding 1]
:*Increased [[head]] circumference
:*[finding 2]
:*[[Hyperpigmentation]] of the [[skin]]
:*[finding 3]
:*[[Telangiectatic]] [[lesions]]
:*[finding 4]
:*[[Facial]] asymmetry
:*[finding 5]
:*[[Congenital]] structural [[eye]] defects
:*[finding 6]
:*[[Cleft lip/ palate]]
:*Deep [[philtrum]]
:*[[Teeth]] crowding
:*Deviated [[jaw]]
:*[[Retrognathia]]
:*[[Hypoplasia]] of the [[distal extremities]]
:*[[Polydactyly]]
:*[[Syndactyly]]
:*[[Congenital hip dislocation]]
:*[[Cardiac]] and [[vascular]] abnormalities
:*[[Supernumerary nipples]]
:*[[Hydronephrosis]]
:*[[Cryptorchidism]]
:*[[Intellectual disability]]
:*[[Neurologic abnormalities]] <ref name="pmid12774039">{{cite journal| author=Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W| title=Clinical and molecular analysis of nine families with Adams-Oliver syndrome. | journal=Eur J Hum Genet | year= 2003 | volume= 11 | issue= 6 | pages= 457-63 | pmid=12774039 | doi=10.1038/sj.ejhg.5200980 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12774039  }} </ref>


=== Laboratory Findings ===
=== Laboratory Findings ===
*There are no specific laboratory findings associated with [disease name].
*There are no specific laboratory findings associated with [[AOS]].


*A  [positive/negative] [test name] is diagnostic of [[Adams-Oliver Syndrome]].
===Electrocardiogram (ECG)===
*An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
*There are no [[ECG]] findings associated with [[AOS]].
*Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].
===Electrocardiogram===
There are no ECG findings associated with [disease name].
 
OR
 
An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].


===X-ray===
===X-ray===
There are no x-ray findings associated with [disease name].
*An [[x-ray]] may be helpful in the diagnosis of [[AOS]]. Findings on an [[X-ray]] suggestive of [[AOS]] include [[skull]] defects <ref name="pmid19951037">{{cite journal| author=Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A| title=Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. | journal=J Neurosurg Pediatr | year= 2009 | volume= 4 | issue= 6 | pages= 523-7 | pmid=19951037 | doi=10.3171/2009.7.PEDS09220 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19951037  }} </ref>, and shortening of [[distal]] [[phalanges]] of [[fingers]] <ref name="pmid19606482">{{cite journal| author=Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM| title=Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 8 | pages= 1678-84 | pmid=19606482 | doi=10.1002/ajmg.a.32938 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19606482  }} </ref>.
 
OR
 
An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [[Adams-Oliver Syndrome]] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no x-ray findings associated with [[Adams-Oliver Syndrome]]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
 
===Echocardiography or Ultrasound===
There are no echocardiography/ultrasound  findings associated with [[Adams-Oliver Syndrome]].
 
OR
 
Echocardiography/ultrasound  may be helpful in the diagnosis of [[Adams-Oliver Syndrome]]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [[Adams-Oliver Syndrome]] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no echocardiography/ultrasound  findings associated with [[Adams-Oliver Syndrome]]. However, an echocardiography/ultrasound  may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===CT scan===
===Echocardiography===
There are no CT scan findings associated with [disease name].


OR
*[[Echocardiography]] may be helpful in the diagnosis of [[AOS]]. Findings suggestive of [[AOS]] include [[ventricular septal defect]] ([[VSD]]), [[tetralogy of Fallot]] <ref name="pmid9823488">{{cite journal| author=Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB| title=Adams-Oliver syndrome associated with cardiovascular malformations. | journal=Clin Dysmorphol | year= 1998 | volume= 7 | issue= 4 | pages= 235-41 | pmid=9823488 | doi=10.1097/00019605-199810000-00001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9823488  }} </ref> [[patent ductus arteriosus]], and [[systolic]] [[pulmonary]] [[artery]] [[pressure]] <ref name="pmid25556654">{{cite journal| author=Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA| title=Adams-Oliver syndrome: a case report. | journal=Pediatr Dermatol | year= 2015 | volume= 32 | issue= 3 | pages= 383-5 | pmid=25556654 | doi=10.1111/pde.12423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25556654  }} </ref>.


[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
===Computed Tomography Scan (CT scan)===
*A [[cranial]] [[CT scan]] may be helpful in the diagnosis of [[AOS]]. Findings on a [[CT scan]] suggestive of [[AOS]] include asymmetrical [[skull]] defects in the [[parietal]] [[bones]] with open [[fontanelles]] and ragged margins <ref name="pmid19951037">{{cite journal| author=Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A| title=Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome. | journal=J Neurosurg Pediatr | year= 2009 | volume= 4 | issue= 6 | pages= 523-7 | pmid=19951037 | doi=10.3171/2009.7.PEDS09220 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19951037  }} </ref> <ref name="pmid19606482">{{cite journal| author=Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM| title=Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway. | journal=Am J Med Genet A | year= 2009 | volume= 149A | issue= 8 | pages= 1678-84 | pmid=19606482 | doi=10.1002/ajmg.a.32938 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19606482  }} </ref>.


OR
===Magenetic Resonance Imaging (MRI)===


There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].
*[[MRI]] of the [[brain]] may be helpful in the diagnosis of [[AOS]]. Findings on [[MRI]] suggestive of [[AOS]] include [[increased head circumference]], and alterations in the [[cerebral ventricles]] and [[meninges]] <ref name="pmid25556654">{{cite journal| author=Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA| title=Adams-Oliver syndrome: a case report. | journal=Pediatr Dermatol | year= 2015 | volume= 32 | issue= 3 | pages= 383-5 | pmid=25556654 | doi=10.1111/pde.12423 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25556654  }} </ref>.
 
===MRI===
There are no MRI findings associated with [[Adams-Oliver Syndrome]].
 
OR
 
[Location] MRI may be helpful in the diagnosis of [[Adams-Oliver Syndrome]]. Findings on MRI suggestive of/diagnostic of [[Adams-Oliver Syndrome]] include [finding 1], [finding 2], and [finding 3].
 
OR
 
There are no MRI findings associated with [[Adams-Oliver Syndrome]]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].


===Other Imaging Findings===
===Other Imaging Findings===
There are no other imaging findings associated with [[Adams-Oliver Syndrome]].
*[[Abdominal ultrasound]] may be helpful in the diagnosis of [[AOS]]. Findings on an [[abdominal ultrasound]] suggestive of [[AOS]] include [[bowel malformations]].


OR
*[[Ocular examination]] may be helpful in the diagnosis of [[AOS]]. Findings suggestive of [[AOS]] include [[esotropia]], [[macular]] involvement caused by [[bilateral falciform retinal folds]], and [[bilateral retinal detachment]] <ref name="pmid17159513">{{cite journal| author=Prothero J, Nicholl R, Wilson J, Wakeling EL| title=Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption. | journal=Clin Dysmorphol | year= 2007 | volume= 16 | issue= 1 | pages= 39-41 | pmid=17159513 | doi=10.1097/MCD.0b013e328010b81c | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17159513  }} </ref>.
 
[Imaging modality] may be helpful in the diagnosis of [[Adams-Oliver Syndrome]]. Findings on an [imaging modality] suggestive of/diagnostic of [[Adams-Oliver Syndrome]] include [finding 1], [finding 2], and [finding 3].


===Other Diagnostic Studies===
===Other Diagnostic Studies===
There are no other diagnostic studies associated with [[Adams-Oliver Syndrome]].
*There are no other diagnostic studies associated with [[AOS]].
 
OR
 
[Diagnostic study] may be helpful in the diagnosis of [[Adams-Oliver Syndrome]]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].
 
OR
 
Other diagnostic studies for [[Adams-Oliver Syndrome]] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].


== Treatment ==
== Treatment ==
=== Medical Therapy ===
=== Medical Therapy ===
*There is no treatment for [[Adams-Oliver Syndrome]]; the mainstay of therapy is supportive care.
*[[Symptomatic]] and [[supportive]] [[treatment]] is the mainstay of [[therapy]] for [[AOS]].  
*Coordinated efforts among various specialists ([[cardiologist]], [[ophthalmologist]], [[pediatrician]], [[orthopedic surgeon]], [[plastic surgeon]], [[physical therapist]], and other medical allies) are needed <ref> https://rarediseases.org/rare-diseases/adams-oliver-syndrome/ Adams-Oliver Syndrome - Symptoms, Causes, Treatment </ref>.
*The mainstay of therapy for [[Adams-Oliver Syndrome]] is [medical therapy 1] and [medical therapy 2].
 
*[Medical therapy 1] acts by [mechanism of action 1].
*Response to [medical therapy 1] can be monitored with [test/physical finding/imaging] every [frequency/duration].
=== Surgery ===
=== Surgery ===
*Surgery is the mainstay of therapy for [[Adams-Oliver Syndrome]].
*[[Skin grafting]], and [[skull]] [[surgery]] may be needed in [[patients]] with [[AOS]] who have [[skeletal]] problems.
*[Surgical procedure] in conjunction with [chemotherapy/radiation] is the most common approach to the treatment of [disease name].
*[[Cardiovascular]] [[surgery]] may be needed in [[patients]] with [[AOS]] who have [[cardiovascular]] [[anomalies]].
*[Surgical procedure] can only be performed for patients with [disease stage] [disease name].
 
=== Prevention ===
=== Prevention ===
*There are no primary preventive measures available for [disease name].
*Effective measures for the primary prevention of [[AOS]] include annual monitoring of [[symptoms]] in [[infants]] manifesting with the condition.
*Annual [[echocardiography]] should be done annually until three years old for signs of [[pulmonary hypertension]].
*Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].
*[[Genetic counseling]] is needed for individuals and families affected with [[AOS]].
 
*Once diagnosed and successfully treated, patients with [disease name] are followed-up every [duration]. Follow-up testing includes [test 1], [test 2], and [test 3].


==References==
==References==

Latest revision as of 07:10, 17 August 2023

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor-in-Chief: Edzel Lorraine Co, DMD, MD[2]

Synonyms and keywords: AOS, congenital scalp defects with distal limb anomalies


Overview

Adams-Oliver syndrome (AOS) is an autosomal dominant disorder which involves the mutation of six genes, namely the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, and RBPJ genes. [1] This disorder has an incidence of 1 in 225,000 births. Patients who have this condition typically present with some cardiovascular defects, terminal transverse limb defects (TTLD), neurologic findings, growth deficiency, accessory nipples, cryptorchidism, renal abnormalities, aplasia cutis congenita (ACC), and Poland sequence. [2]

Historical Perspective

Classification

Table 1.Classification of Adams-Oliver syndrome. [12].
Type Inheritance Location
Adams-Oliver syndrome 1 Autosomal dominant 3q13.32-q13.33
Adams-Oliver syndrome 2 Autosomal recessive 19p13.2
Adams-Oliver syndrome 3 Autosomal dominant 4p15.2
Adams-Oliver syndrome 4 Autosomal recessive 3p14.1
Adams-Oliver syndrome 5 Autosomal dominant 9q34.3
Adams-Oliver syndrome 1 Autosomal dominant 15q15.1

Pathophysiology

Causes

Differentiating Adams-Oliver syndrome from other Diseases

Epidemiology and Demographics

Age

Gender

  • AOS affects men and women equally [14]..

Race

  • There is no racial predilection for AOS [14].

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

  • AOS is usually asymptomatic.

Physical Examination

  • Patients with AOS may be remarkable for:

Laboratory Findings

  • There are no specific laboratory findings associated with AOS.

Electrocardiogram (ECG)

  • There are no ECG findings associated with AOS.

X-ray

Echocardiography

Computed Tomography Scan (CT scan)

Magenetic Resonance Imaging (MRI)

Other Imaging Findings

Other Diagnostic Studies

  • There are no other diagnostic studies associated with AOS.

Treatment

Medical Therapy

Surgery

Prevention

References

  1. Hassed S, Li S, Mulvihill J, Aston C, Palmer S (2017). "Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype". Am J Med Genet A. 173 (3): 790–800. doi:10.1002/ajmg.a.37889. PMID 28160419.
  2. 2.0 2.1 Lacoste J, Bertrand A, Karcher G, Martin J (1978). "[Dynamic and topographic measurement of lung gas exchange by means of intravenous Xenon 133 and illustrated with the aid of a computer]". Lille Med. 23 (6): 406–11. PMID https://www.ncbi.nlm.nih.gov/books/NBK355754/ Check |pmid= value (help).
  3. Rashid S, Azeem S, Riaz S (2022). "Adams-Oliver Syndrome: A Rare Congenital Disorder". Cureus. 14 (3): e23297. doi:10.7759/cureus.23297. PMC 9012592 Check |pmc= value (help). PMID 35449659 Check |pmid= value (help).
  4. Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K; et al. (2013). "Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome". Am J Hum Genet. 92 (4): 598–604. doi:10.1016/j.ajhg.2013.02.012. PMC 3617382. PMID 23522784.
  5. Hassed SJ, Wiley GB, Wang S, Lee JY, Li S, Xu W; et al. (2012). "RBPJ mutations identified in two families affected by Adams-Oliver syndrome". Am J Hum Genet. 91 (2): 391–5. doi:10.1016/j.ajhg.2012.07.005. PMC 3415535. PMID 22883147.
  6. Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE; et al. (2011). "Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome". Am J Hum Genet. 89 (2): 328–33. doi:10.1016/j.ajhg.2011.07.009. PMC 3155174. PMID 21820096.
  7. Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM; et al. (2011). "Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies". Am J Hum Genet. 88 (5): 574–85. doi:10.1016/j.ajhg.2011.04.013. PMC 3146732. PMID 21565291.
  8. Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H; et al. (2014). "Mutations in NOTCH1 cause Adams-Oliver syndrome". Am J Hum Genet. 95 (3): 275–84. doi:10.1016/j.ajhg.2014.07.011. PMC 4157158. PMID 25132448.
  9. Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N; et al. (2015). "Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome". Am J Hum Genet. 97 (3): 475–82. doi:10.1016/j.ajhg.2015.07.015. PMC 4564989. PMID 26299364.
  10. Swartz EN, Sanatani S, Sandor GG, Schreiber RA (1999). "Vascular abnormalities in Adams-Oliver syndrome: cause or effect?". Am J Med Genet. 82 (1): 49–52. doi:10.1002/(sici)1096-8628(19990101)82:1<49::aid-ajmg10>3.0.co;2-m. PMID 9916843.
  11. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J; et al. (2015). "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology". Genet Med. 17 (5): 405–24. doi:10.1038/gim.2015.30. PMC 4544753. PMID 25741868.
  12. https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
  13. https://accesspediatrics.mhmedical.com/content.aspx?bookid=2674&sectionid=220520418 Adams-Oliver Syndrome (AOS) | Syndromes: Rapid Recognition and Perioperative Implications, 2e | AccessPediatrics | McGraw Hill Medical
  14. 14.0 14.1 14.2 Zakanj Z, Bedek D, Kotrulja L, Ozanic Bulic S (2016). "Adams-Oliver syndrome in a newborn infant". Int J Dermatol. 55 (2): 215–7. doi:10.1111/ijd.12469. PMID 24697559.
  15. Saeidi M, Ehsanipoor F (2017). "A Case of Adams-Oliver Syndrome". Adv Biomed Res. 6: 167. doi:10.4103/2277-9175.221861. PMC 5767801. PMID 29387678.
  16. MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); [updated 2015 Nov 1]. Adams-Oliver syndrome; [updated 2015 Nov 1; [about 5 p.]. Available from: https://medlineplus.gov/genetics/condition/adams-oliver-syndrome/
  17. Bakry O, Attia A, El Shafey EN (2012). "Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects". J Dermatol Case Rep. 6 (1): 25–8. doi:10.3315/jdcr.2012.1092. PMC 3322107. PMID 22514587.
  18. Dehdashtian A, Dehdashtian M (2016). "Adams-Oliver Syndrome: A Case with Full Expression". Pediatr Rep. 8 (2): 6517. doi:10.4081/pr.2016.6517. PMC 4933813. PMID 27433307.
  19. Rashid S, Azeem S, Riaz S (2022). "Adams-Oliver Syndrome: A Rare Congenital Disorder". Cureus. 14 (3): e23297. doi:10.7759/cureus.23297. PMC 9012592 Check |pmc= value (help). PMID 35449659' Check |pmid= value (help).
  20. Lehman A, Wuyts W, Patel MS. Adams-Oliver Syndrome. 2016 Apr 14. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.https://www.ncbi.nlm.nih.gov/books/NBK355754/ Adams-Oliver Syndrome - GeneReviews® - NCBI Bookshelf |
  21. Verdyck P, Holder-Espinasse M, Hul WV, Wuyts W (2003). "Clinical and molecular analysis of nine families with Adams-Oliver syndrome". Eur J Hum Genet. 11 (6): 457–63. doi:10.1038/sj.ejhg.5200980. PMID 12774039.
  22. 22.0 22.1 Khashab ME, Rhee ST, Pierce SD, Khashab YE, Nejat F, Fried A (2009). "Management of large scalp and skull defects in a severe case of Adams-Oliver syndrome". J Neurosurg Pediatr. 4 (6): 523–7. doi:10.3171/2009.7.PEDS09220. PMID 19951037.
  23. 23.0 23.1 Baskar S, Kulkarni ML, Kulkarni AM, Vittalrao S, Kulkarni PM (2009). "Adams-Oliver syndrome: Additions to the clinical features and possible role of BMP pathway". Am J Med Genet A. 149A (8): 1678–84. doi:10.1002/ajmg.a.32938. PMID 19606482.
  24. Lin AE, Westgate MN, van der Velde ME, Lacro RV, Holmes LB (1998). "Adams-Oliver syndrome associated with cardiovascular malformations". Clin Dysmorphol. 7 (4): 235–41. doi:10.1097/00019605-199810000-00001. PMID 9823488.
  25. 25.0 25.1 Frantz JA, Lehmkuhl RL, Leitis LH, Uliano VG, Siementcoski GA (2015). "Adams-Oliver syndrome: a case report". Pediatr Dermatol. 32 (3): 383–5. doi:10.1111/pde.12423. PMID 25556654.
  26. Prothero J, Nicholl R, Wilson J, Wakeling EL (2007). "Aplasia cutis congenita, terminal limb defects and falciform retinal folds: confirmation of a distinct syndrome of vascular disruption". Clin Dysmorphol. 16 (1): 39–41. doi:10.1097/MCD.0b013e328010b81c. PMID 17159513.
  27. https://rarediseases.org/rare-diseases/adams-oliver-syndrome/ Adams-Oliver Syndrome - Symptoms, Causes, Treatment

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