PHENOTYPIC VARIATION IN ACROCEPHALOSYNDACTYLY SYNDROMES - UNUSUAL FINDINGS IN PATIENT WITH FEATURES OF APERT AND SAETHRE-CHOTZEN SYNDROMES

The acrocephalosyndactyly syndromes have presented diagnostic challeng es because of overlap in their clinical manifestations. We present a p atient with features most suggestive of Apert syndrome, but with a pat tern of syndactyly not previously described. In contrast to the comple x syndactyly reported as a universal feature of this syndrome, this pa tient shows close to total simple syndactyly of the index through ring fingers of each hand. Differential diagnoses are discussed. Because t he features are reminiscent of Apert syndrome, we suggest that a new c lassification of hand morphology should be added to include the patter n described here.