Schinzel's syndrome I
A syndrome of mental retardation, peculiar facies, absence of the corpus callosum, and polydactyly. Orofacial features consist of antimongoloid palpebral fissures, macrocephaly, prominent eyes, epicanthal folds, bulging forehead, short nose, and short upper lip. Clinodactyly of the fifth fingers may occur. The affected children are generally hyperreflexic and hypotonic. Autosomal recessive inheritance. Several cases of consanguineous parents.
- A. Schinzel:
Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macroencephaly and severe mental retardation: a new syndrome.
Helvetica Paediatrica Acta, Basel, 1979,34: 141-146. The acrocallosal syndrome in first cousins. Widening of the spectrum of clinical findings and further support of autosomal recessive inheritance.
Journal of Medical Genetics, London, 1988, 25: 332-336.