The phenotypic spectrum of baraitser-winter syndrome: a new case and review of literature.

doi:10.1016/j.jaapos.2005.05.001

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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...

Topics

Blepharoptosis
Brain
Child, Preschool
Choroid
Coloboma
Female
Humans
Hypertelorism
Intellectual Disability
Iris
Magnetic Resonance Imaging
Optic Nerve
Phenotype

Source

Open in PubMed

Identifiers

PMID: 16414535
DOI: 10.1016/j.jaapos.2005.05.001

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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