Lb. Holmes et al., ABSENCE HYPOPLASIA OF TIBIA, POLYDACTYLY, RETROCEREBELLAR ARACHNOID CYST, AND OTHER ANOMALIES - AN AUTOSOMAL RECESSIVE DISORDER, Journal of Medical Genetics, 32(11), 1995, pp. 896-900
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.