Two brothers with Goldberg-Shprintzen syndrome

Abstract

Goldberg-Shprintzen syndrome is a rare autosomal recessive condition that describes the association of Hirschsprung disease with microcephaly, developmental delay and characteristic facies. We describe two brothers from a non-consanguineous family who have classical features of Goldberg-Shprintzen syndrome. The novel findings in this instance are of foot anomalies including camptodactyly and clinodactyly of the 2nd to 4th toes, which have not been previously described in Goldberg-Shprintzen syndrome.