1287 SYNDROMES ASSOCIATED WITH POLYDACTYLY AND HYPOPITUITARISM

Abstract

We report two female infants with postaxial polydactyly and hypopituitarism of differing etiologies. The first infant was born at term to a 26-year-old gravida 6 para 2 abortus 4 woman who noted markedly decreased fetal movement and intrauterine growth retardation. She was delivered from a breech presentation with posteriorly rotated simplified auricles, short nose, flat nasal bridge, microglossia, micrognathia, cleft posterior palate, short limbs with dislocated hips, postaxial polydactyly of hands and feet, bilateral simian creases, and 2-3 syndactyly of the toes. She died at 21 hours of age and autopsy revealed hypothalamic hamartoblastoma, bilateral hypoplastic renal ectopia, bilateral pulmonary hypoplasia, and a bifid epiglottis. Family history revealed that the mother's sister had died at 17 hours of age with remarkably similar dysmorphic features (no autopsy done), and this is the first report of apparent familial recurrence for Hall-Pallister syndrome. The second infant was born by cesarean section at 42 weeks with postaxial polydactyly of the left hand and primary panhypopituitarism. This pregnancy in a 21-year-old gravida 2, abortus 1 woman was complicated by extremely low maternal estriols. Size at birth and a cranial CT scan were normal, and the family history was negative for other individuals with hypopituitarism or polydactyly. Postaxial polydactyly may be associated with hypopituitarism, especially when associated with cleft palate, choanal atresia, congenital heart disease, and basal brain anomalies.