ABSENCE HYPOPLASIA OF TIBIA, POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES - AN AUTOSOMAL RECESSIVE DISORDER

Absence or hypoplasia of the tibia has been reported to occur as an is olated hereditary malformation as well as a feature of several autosom al recessive and autosomal dominant syndromes. We report three sibs wi th absence or hypoplasia of the tibia in association with other malfor mations whose parents are first cousins once removed. These infants ap pear to have a ''new'' autosomal recessive syndrome.