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Egyptian Journal of Medical Human Genetics

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C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child

Rabah M. Shawky, Radwa Gamal

Abstract


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.

Keywords: C syndrome; Skeletal anomalies; Mental retardation; Eye lid chalazion; Bitot’s spots; Agenesis of corpus callosum




http://dx.doi.org/10.1016/j.ejmhg.2016.01.006
AJOL African Journals Online