DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE IN A CONSANGUINEOUS DRUZE LEBANESE FAMILY - LONG-TERM SURVIVAL AND DOCUMENTATION OF THE NATURAL-HISTORY

We report on a male infant born with clinical and radiographic evidenc e of a lethal form of dyssegmental dysplasia not comparable to Silverm an-Handmaker type, who had a prolonged survival of more than eight mon ths, He had ocular and central nervous system abnormalities which have not been previously described, His course included significant feedin g and respiratory difficulties, severe physical and psychomotor retard ation, and recurrent fever of unknown etiology believed to be of centr al origin, The relatively long survival of this infant enabled us to f ocus on the natural history of this rare syndrome, The infant was born to first cousin parents of Druze Lebanese origin supporting an autoso mal recessive mode of inheritance for the condition. This is the first documentation of dyssegmental dysplasia Silverman-Handmaker type in a family of Druze Lebanese ethnicity, (C) 1998 Wiley-Liss, Inc.