Ohdo et al. (1987) described a 1-year-old child born to second-cousin parents who had tetraamelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening toward the exterior, prominent and bulbous nose, large ... Ohdo et al. (1987) described a 1-year-old child born to second-cousin parents who had tetraamelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening toward the exterior, prominent and bulbous nose, large downturned mouth (carp mouth), high narrow palate, bilateral preauricular pits, sacral dimple, bilateral undescended testes, and developmental retardation. Since the next fetus conceived by the mother was found on ultrasonography to have no limbs, abortion was induced. The facies of the abortus resembled that of the proband. Ohdo et al. (1994) provided follow-up information on this patient. The proband had been admitted into an institution for severely mentally and physically handicapped children. His temperature increased when the ambient temperature was high and he suffered from persistent constipation. He never developed eyebrows, eyelashes, or hair on his head. EEG was within normal limits. A CT scan of the brain showed ventriculomegaly and increased subarachnoid space. At 8 years 5 months of age his mental age was evaluated as being 5 months. He suffered frequently from dehydration. At death at the age of 8 years 7 months, his crown-to-rump measurement was 49.0 cm, weight 4.96 kg, and head circumference 48.2 cm. At necropsy, regurgitant esophagitis, a poorly developed small intestine, and small, thick-walled urinary bladder were found.