FAMILIAL PALLISTER-HALL SYNDROME - CASE-REPORT AND HORMONAL EVALUATION

Pallister-Hall syndrome is a usually lethal dysplasia/malformation syn drome characterized by hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly, craniofacial malformations, imperforate anus, a nd other malformations. We report a familial case in a male infant and his female sib fetus, suggesting autosomal recessive inheritance, or germinal mosaicism for an autosomal dominant mutation, or a segregatin g submicroscopic chromosome abnormality. Detailed endocrine evaluation on the surviving infant revealed documented pituitary function, pitui tary deficit, and hypothalamic deficiency. We suggest that hypothalami c dysfunction contributes to the hypopituitarism seen in Pallister-Hal l syndrome. (C) 1993 Wiley-Liss, Inc.