C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child
Joint Authors
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 18, Issue 1 (31 Jan. 2017), pp.93-97, 5 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2017-01-31
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Topics
Abstract EN
We report a 2.5 year old female child, third in order of birth of healthy non consanguineous Egyptian parents with C syndrome.
The patient had moderate mental retardation, trigonocephaly, protruding forehead, low anterior hair line, wide upslanted palpebral fissures, depressed nasal bridge, broad nose, high arched palate, microretrognathia, low set ears, short neck, scoliosis, hypertrichosis over the back, talipes equinovarus as well as interatrial septal defect.
The patient had in addition chalazion in left lower eyelid as well as bilateral Bitot’s spots most probably due to vitamin A deficiency.
MRI brain revealed agenesis of the corpus callosum.
American Psychological Association (APA)
Shawqi, Rabah M.& Jamal, Radwah. 2017. C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child. The Egyptian Journal of Medical Human Genetics،Vol. 18, no. 1, pp.93-97.
https://search.emarefa.net/detail/BIM-777820
Modern Language Association (MLA)
Shawqi, Rabah M.& Jamal, Radwah. C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child. The Egyptian Journal of Medical Human Genetics Vol. 18, no. 1 (Jan. 2017), pp.93-97.
https://search.emarefa.net/detail/BIM-777820
American Medical Association (AMA)
Shawqi, Rabah M.& Jamal, Radwah. C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child. The Egyptian Journal of Medical Human Genetics. 2017. Vol. 18, no. 1, pp.93-97.
https://search.emarefa.net/detail/BIM-777820
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 96-97
Record ID
BIM-777820