Syndrome of retardation with urogenital and skeletal anomalies (Smith-Lemli-Opitz syndrome): clinical features and mode of inheritance.

uterine growth retardation, breech presentation, failure to thrive, vomiting in infancy, microcephaly, mental deficiency, blepharoptosis, short nose with a broad bridge and anteverted nares, broad maxillary alveolus, micrognathia, short neck, hypospadias and cryptorchidism (in males), simian palmar creases, metatarsus adductus, pedal syndactyly, and abnormal dermatoglyphic patterns. Additional data on the clinical features of this syndrome and its mode of inheritance are provided by the following description of 9 affected children from 6 families.