Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness

Ward et al. (1992) described a sister and brother with upper limb defects, developmental delay, central hearing loss, unilateral poorly developed antihelix, and bilateral choroid coloboma. Height and weight were below the third percentile. The girl had a hypoplastic right thumb, poorly developed antihelix of the right ear, and cataract in the right eye. The boy, in addition to hypoplastic left thumb and poorly developed antihelix of the left ear, had bilateral cryptorchidism. The parents were unrelated.