TY - JOUR
T1 - The phenotypic spectrum of Baraitser-Winter syndrome
T2 - A new case and review of literature
AU - Ganesh, Anuradha
AU - Al-Kindi, Adila
AU - Jain, Rajeev
AU - Raeburn, Sandy
PY - 2005/12
Y1 - 2005/12
N2 - The syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man - OMIM # 243310; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.1 Six additional individuals with a similar phenotype have been reported in the world literature.2-6 Microphthalmos, microcornea, and brain malformations were added to the phenotypic spectrum of this syndrome in 1995 (Table 1).5 We report a child who presented with the aforementioned findings. Eye examination revealed bilateral microphthalmos and typical iris, optic nerve, and choroidal colobomas. Magnetic resonance imaging of the brain demonstrated pachygyria and cortical atrophy.
AB - The syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Online Mendelian Inheritance in Man - OMIM # 243310; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=243310), also known as the Baraitser-Winter syndrome, originally was described in a brother and sister and in an unrelated girl in 1988.1 Six additional individuals with a similar phenotype have been reported in the world literature.2-6 Microphthalmos, microcornea, and brain malformations were added to the phenotypic spectrum of this syndrome in 1995 (Table 1).5 We report a child who presented with the aforementioned findings. Eye examination revealed bilateral microphthalmos and typical iris, optic nerve, and choroidal colobomas. Magnetic resonance imaging of the brain demonstrated pachygyria and cortical atrophy.
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U2 - 10.1016/j.jaapos.2005.05.001
DO - 10.1016/j.jaapos.2005.05.001
M3 - Article
C2 - 16414535
AN - SCOPUS:30744444931
SN - 1091-8531
VL - 9
SP - 604
EP - 606
JO - Journal of AAPOS
JF - Journal of AAPOS
IS - 6
ER -