Ulnar Hypoplasia With Mental Retardation

The association of mesomelic shortness of the upper limbs (mainly due to hypoplastic ulna), clubfeet, and anonychia congenita was described by Kohn et al. (1989, 1995) in 2 males born of an inbred Arab couple. Lower limbs showed limitation of movement at the knees, severe varus deformity, and absence of all toenails. The arms showed limitation of movement at the elbows and absence of all fingernails. One child, who was severely mentally retarded, died at the age of 3 years; the other child died at age 6 months. Ultrasound examination during the next pregnancy revealed a fetus with bilaterally short forearms. The pregnancy was terminated, and a female fetus with similar malformations was delivered. Autopsy showed no internal anomalies. Kohn et al. (1995) suggested that this association is a 'new' syndrome with autosomal recessive inheritance.