Article
The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2005
Ganesh Anuradha, Al-Kindi Adila, Jain Rajeev, Raeburn Sandy
Abstract excerpt
The syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man -- OMIM # 243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988. Six additional individuals with a similar phenotype have been reported in the world literature. Microphthalmos, microcornea, and brain malformations were...
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