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Egyptian Journal of Medical Human Genetics

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Case Report: Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome

RM Shawky, HSAE Elabd, R Gamal

Abstract


Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects.
Case report: A 3.5 year old female child with BRWS has bilateral congenital ptosis, microcornea, iris, choroid, and optic nerve coloboma, retinal detachment, and mental retardation. She has also frontal bossing, prominent forehead, thick eyebrows, transverse slanting, hypertelorism, wide palpebral fissures, and nystagmus. The nose is broad, and bulbous with wide nares, and broad nasal tip. She has also low set posteriorly rotated ears, full cheeks, long philtrum, large mouth (macrostomia), gum hypertrophy, decayed teeth, high arched palate, pointed chin, short neck, low posterior hair line, partial left simian crease, and short fingers. MRI brain shows frontal polymicrogyria.
Conclusion: This patient represents a mild case of Baraitser–Winter syndrome.

Keywords: Baraitser–Winter syndrome; Optic nerve coloboma; Ptosis; Mental retardation




http://dx.doi.org/10.1016/j.ejmhg.2013.11.001
AJOL African Journals Online