CRANIOSYNOSTOSIS, PHILADELPHIA TYPE - A NEW AUTOSOMAL-DOMINANT SYNDROME WITH SAGITTAL CRANIOSYNOSTOSIS AND SYNDACTYLY OF THE FINGERS AND TOES

The acrocephalosyndactyly syndromes (ACS) are a group of clinically si milar disorders that share the manifestations of craniosynostosis and a variety of hand and foot anomalies. Here we report on a 5-generation kindred segregating sagittal craniosynostosis and syndactyly of the f ingers and the toes in an autosomal dominant manner. The anomalies see n in this kindred comprise a syndrome distinct from other craniosynost osis syndromes. For this novel syndrome, we propose the name craniosyn ostosis, Philadelphia type. (C) 1996 Wiley-Liss, Inc.