Trigonomicrocephaly, severe micrognathia, large ears, atrioventricular septal defect, symmetrical cutaneous syndactyly of hands and feet, and multiple cafe-au-lait spots: New acrocraniofacial dysostosis syndrome?

We report on a patient with a unique constellation of anomalies comprising trigonomicrocephaly, asymmetric severe micrognathia, large ears, atrioventr icular septal defect, vertebral anomalies, bilateral cutaneous syndactyly o f fingers and toes, unilateral cryptorchidism and multiple cafe-au-lait spo ts. The mother of the propositus has multiple cafe-au-lait spots. Search of POSSUM and the London Dysmorphology Database (LDDB) uncovered no similar c ase, We think that this patient represents a new acrocraniofacial dysostosi s syndrome. (C) 2001 Wiley-Liss, Inc.