CRANIOSYNOSTOSIS SUGGESTIVE OF SAETHRE-CHOTZEN SYNDROME - CLINICAL DESCRIPTION OF A LARGE KINDRED AND EXCLUSION OF CANDIDATE REGIONS ON 7P

We decribe the clinical manifestations of an autosomal dominant form o f craniosynostosis in a large family with eight affected relatives, Un ilateral or bilateral coronal synostosis, low frontal hair line, strab ismus, ptosis, and partial cutaneous syndactyly of fingers and toes ar e findings suggestive of the diagnosis of Saethre-Chotzen syndrome. Th e disease locus was excluded from the two adjacent Saethre-Chotzen can didate regions on 7p by linkage analysis with markers D7S664 and D7S50 7. This indicates heterogeneity of Saethre-Chotzen syndrome with a loc us outside the candidate regions on 7p. (C) 1996 Wiley-Liss, Inc.