THE POINTER SYNDROME - A NEW SYNDROME WITH SKELETAL ABNORMALITIES, CAMPTODACTYLY, FACIAL ANOMALIES, AND FEEDING DIFFICULTIES

We describe a brother and sister with a unique combination of skeletal findings including camptodactyly (phalangeal dislocations), facial an omalies, neonatal respiratory problems, and feeding problems due to po or suck. Metaphyseal splaying, osteopenia, endosteal bone apposition, campomelia, and multiple fractures characterize the other skeletal abn ormalities. The parents are first cousins once removed and are unaffec ted. These cases appear to represent a previously undescribed autosoma l recessive disorder. (C) 1997 Wiley-Liss, Inc.