Familial association of camptodactyly, mental retardation, whistling face and Pierre Robin sequence

Two sibs are reported with severe developmental retardation combined with t he clinical triad of camptodactyly, whistling face and Pierre Robin sequenc e as clinical signs of fetal hypokinesia. In spite of tracheotomy; the firs t child of the family died 10 hours after birth. A sister of this child was born 1 year later. During pregnancy prenatal diagnosis of hydrocephaly was made by ultrasonographic examination. MRI scan showed holoprosencephaly. A t 15 months of age psychomotor development is severely impaired, birth and length are delayed. Clin Dysmorphol 8: 247-251 (C) 1999 Lippincott Williams & Wilkins.