Abstract |
The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.
|
Authors | R C Hennekam, R J Gorlin |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 65
Issue 2
Pg. 146-8
(Oct 16 1996)
ISSN: 0148-7299 [Print] United States |
PMID | 8911608
(Publication Type: Case Reports, Journal Article, Review)
|
Topics |
- Child
- Deafness
(complications, genetics)
- Eye Abnormalities
(complications, genetics)
- Female
- Humans
- Hypopigmentation
(complications, genetics)
- Infant
- Infant, Newborn
- Learning Disabilities
(complications, genetics)
- Male
- Muscle Hypertonia
(complications, genetics)
- Pregnancy
- Syndrome
|