Leg, Absence Deformity Of, With Congenital Cataract
Clinical Features
In 2 distantly related Amish boys, McKusick et al. (1968) observed absence deformity of the left leg, congenital cataract, and progressive scoliosis. One of the boys had also partial duplication of the left foot, imperforate anus, and partial paralysis of muscles supplied by the third cranial nerve. Roentgenographic evidence of generalized spondyloepiphyseal dysplasia was present in both, and both were shorter of stature than was accounted for solely by the spinal curvature. Both had dysplasia of the optic nerve and serious visual impairment even after extraction of the cataracts. Intellectual capacity was unimpaired.
InheritanceAll 4 parents of the boys with this rare disorder shared at least 2 ancestral couples in common, strongly suggesting autosomal recessive inheritance (McKusick et al., 1968).