Duplication 6p

Trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation. Affected individuals have a characteristic craniofacial dysmorphism with dolichocephaly, a high forehead with a high and broad nasal bridge, bulbous nose with hyperplastic nares, short philtrum, small mouth with thin lips, and micrognathia; choanal atresia, camptodactyly, syndactyly, and genitourinary malformations may be evident. Ophthalmic features include hypertelorism, strabismus, long lashes, blepharophimosis, blepharoptosis, optic atrophy, and microphthalmia.112,329

Was this article helpful?

0 0

Post a comment