CONGENITAL CONTRACTURAL ARACHNODACTYLY IN 2 DOUBLE 2ND COUSINS - POSSIBLE HOMOZYGOSITY

A Bedouin family with two girls affected by severe congenital contract ural arachnodactyly (CCA) is described. The girls were double second c ousins. One of the girls also had ambiguous genitalia, an anomaly not generally associated with this disorder. The two children were both th e product of first-cousin Bedouin parents from the same family. It is possible that both sets of parents were heterozygous for CCA; thus the infants may have been homozygous for CCA, which is usually an autosom al dominant condition. No instance of homozygous CCA has previously be en reported. This family suggests genetic heterogeneity in CCA and tha t, in some rare families, the mode of inheritance may be autosomal rec essive.