Pseudotrisomy 13 syndrome in siblings

Abstract

We describe a brother and sister who both had holoprosencephaly, polydactyly, cardiac lesions and a normal karyotype. The parents were first cousins and a diagnosis of pseudotrisomy 13 syndrome is suggested. This report provides further support that the inheritance of pseudotrisomy 13 syndrome is autosomal recessive. (C) 2000 Lippincott Williams and Wilkins.