Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an egyptian patient with mild baraitser–winter syndrome
Joint Authors
Shawqi, Rabah M.
Abd al-Khaliq, Hibah Salah
Jamal, Radwah
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 15, Issue 1 (31 Jan. 2014), pp.95-97, 3 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2014-01-31
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Topics
Abstract EN
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.
American Psychological Association (APA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Jamal, Radwah. 2014. Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an egyptian patient with mild baraitser–winter syndrome. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 1, pp.95-97.
https://search.emarefa.net/detail/BIM-360491
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an egyptian patient with mild baraitser–winter syndrome. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 1 (Jan. 2014), pp.95-97.
https://search.emarefa.net/detail/BIM-360491
American Medical Association (AMA)
Shawqi, Rabah M.& Abd al-Khaliq, Hibah Salah& Jamal, Radwah. Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an egyptian patient with mild baraitser–winter syndrome. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 1, pp.95-97.
https://search.emarefa.net/detail/BIM-360491
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 97
Record ID
BIM-360491