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Egyptian Journal of Medical Human Genetics

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C syndrome in an Egyptian infant with dilated brain ventricles and heteroto pia

RM Shawky, DI Sadik

Abstract




C syndrome is an autosomal recessive disorder characterized by trigonocephaly,
partial or complete obliteration of the metopic suture which is characteristic, and short limbs. In this paper we describe an Egyptian boy affected with this syndrome, with no exophthalmos and with dilated brain ventricles and heterotopia.

Keywords: C syndrome, trigonocephaly, cutaneous syndactyly, metopic suture

Egyptian Journal of Medical Human Genetics Vol. 9 (2) 2008: pp. 257-262



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