Cross syndrome: Difference between revisions
No edit summary |
No edit summary |
||
| (12 intermediate revisions by 2 users not shown) | |||
| Line 16: | Line 16: | ||
{{CMG}} {{AE}} {{RT}} | {{CMG}} {{AE}} {{RT}} | ||
'''''Synonyms and keywords''''':Cross–McKusick–Breen syndrome, Oculocerebral-hypopigmentation syndrome, Hypopigmentation and microphthalmia | '''''Synonyms and keywords''''':Cross–McKusick–Breen syndrome, Oculocerebral-hypopigmentation syndrome, Hypopigmentation and microphthalmia, Kramer syndrome | ||
==Overview== | ==Overview== | ||
Cross–McKusick–Breen syndrome is an extremely rare disorder characterized by skin, hair, eye and cerebral abnormalities. | |||
It was characterized in 1967.<ref name="pmid4959856">{{cite journal |author=Cross HE, McKusick VA, Breen W |title=A new oculocerebral syndrome with hypopigmentation |journal=J. Pediatr. |volume=70 |issue=3 |pages=398–406 |year=1967 |month=March |pmid=4959856 |doi= 10.1016/S0022-3476(67)80137-9|url=}}</ref>It is named for Harold Cross.<ref>{{WhoNamedIt|synd|1387}}</ref><ref name="pmid4959856">{{cite journal |author=Cross HE, McKusick VA, Breen W |title=A new oculocerebral syndrome with hypopigmentation |journal=J. Pediatr. |volume=70 |issue=3 |pages=398–406 |year=1967 |month=March|pmid=4959856 |doi= |url=}}</ref> | ==Historical Perspective== | ||
It was characterized in 1967.<ref name="pmid4959856">{{cite journal |author=Cross HE, McKusick VA, Breen W |title=A new oculocerebral syndrome with hypopigmentation |journal=J. Pediatr. |volume=70 |issue=3 |pages=398–406 |year=1967 |month=March|pmid=4959856 |doi= 10.1016/S0022-3476(67)80137-9|url=}}</ref> It is named for Harold Cross.<ref>{{WhoNamedIt|synd|1387}}</ref><ref name="pmid4959856">{{cite journal |author=Cross HE, McKusick VA, Breen W |title=A new oculocerebral syndrome with hypopigmentation |journal=J. Pediatr. |volume=70 |issue=3 |pages=398–406 |year=1967|month=March|pmid=4959856 |doi= |url=}}</ref> | |||
== | ==Pathophysiology== | ||
Cross syndrome is assumed to be [[autosomal recessive]] in transmission. Molecular cytogenetics reveal de novo interstitial deletion of (3)(q27.1q29) of the paternal chromosome.<ref name="Andrews">James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. ISBN 0-7216-2921-0.</ref><ref name="pmid22327602">{{cite journal |author=Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP |title=Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29 |journal=Dermatology (Basel) |volume=223 |issue=4 |pages=306–10 |year=2011 |pmid=22327602 |doi=10.1159/000335609|url=}}</ref> | |||
==Diagnosis== | |||
===Symptoms=== | |||
* Jerky [[pathologic nystagmus|nystagmus]] | |||
* Vision disturbances | |||
* Involuntary muscle contractions | |||
* Recurrent infections | |||
===Physical Examination=== | |||
====Skin==== | |||
* White skin ([[albanism]]) | |||
* Blond hair with yellow-gray metallic sheen | |||
====HEENT==== | |||
* [[Microcephaly]] | |||
* Small eyes with cloudy [[cornea]]s | |||
* [[Gingival fibromatosis]] | |||
====Neurologic==== | |||
* [[Mental retardation]] - decreased intellectual capacity | |||
* Jerky [[pathologic nystagmus|nystagmus]] | |||
== External links == | == External links == | ||
Latest revision as of 14:21, 25 July 2012
| Cross syndrome | |
| ICD-10 | E70.3 (ILDS E70.380) |
|---|---|
| OMIM | 257800 |
| DiseasesDB | 32011 |
|
WikiDoc Resources for Cross syndrome |
|
Articles |
|---|
|
Most recent articles on Cross syndrome Most cited articles on Cross syndrome |
|
Media |
|
Powerpoint slides on Cross syndrome |
|
Evidence Based Medicine |
|
Clinical Trials |
|
Ongoing Trials on Cross syndrome at Clinical Trials.gov Trial results on Cross syndrome Clinical Trials on Cross syndrome at Google
|
|
Guidelines / Policies / Govt |
|
US National Guidelines Clearinghouse on Cross syndrome NICE Guidance on Cross syndrome
|
|
Books |
|
News |
|
Commentary |
|
Definitions |
|
Patient Resources / Community |
|
Patient resources on Cross syndrome Discussion groups on Cross syndrome Patient Handouts on Cross syndrome Directions to Hospitals Treating Cross syndrome Risk calculators and risk factors for Cross syndrome
|
|
Healthcare Provider Resources |
|
Causes & Risk Factors for Cross syndrome |
|
Continuing Medical Education (CME) |
|
International |
|
|
|
Business |
|
Experimental / Informatics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Synonyms and keywords:Cross–McKusick–Breen syndrome, Oculocerebral-hypopigmentation syndrome, Hypopigmentation and microphthalmia, Kramer syndrome
Overview
Cross–McKusick–Breen syndrome is an extremely rare disorder characterized by skin, hair, eye and cerebral abnormalities.
Historical Perspective
It was characterized in 1967.[1] It is named for Harold Cross.[2][1]
Pathophysiology
Cross syndrome is assumed to be autosomal recessive in transmission. Molecular cytogenetics reveal de novo interstitial deletion of (3)(q27.1q29) of the paternal chromosome.[3][4]
Diagnosis
Symptoms
- Jerky nystagmus
- Vision disturbances
- Involuntary muscle contractions
- Recurrent infections
Physical Examination
Skin
- White skin (albanism)
- Blond hair with yellow-gray metallic sheen
HEENT
- Microcephaly
- Small eyes with cloudy corneas
- Gingival fibromatosis
Neurologic
- Mental retardation - decreased intellectual capacity
- Jerky nystagmus
External links
References
- ↑ 1.0 1.1 Cross HE, McKusick VA, Breen W (1967). "A new oculocerebral syndrome with hypopigmentation". J. Pediatr. 70 (3): 398–406. doi:10.1016/S0022-3476(67)80137-9. PMID 4959856. Unknown parameter
|month=ignored (help) - ↑ Template:WhoNamedIt
- ↑ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
- ↑ Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP (2011). "Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29". Dermatology (Basel). 223 (4): 306–10. doi:10.1159/000335609. PMID 22327602.