Hereditary Gottron's acrogeria with recessive transmission: a report of four cases in one family.

Four cases of acrogeria in one large family with multiple consanguineous marriages are reported. Inheritance is autosomal recessive. Evaluation of six generations of this family also showed six individuals with congenital blindness; this pedigree suggests autosomal recessive inheritance also for this disorder. Association of the two conditions was not seen in living members. The initial presentation in the patients with acrogeria was failure of growth during the first year of life, accompanied by characteristic facial appearance and cutaneous atrophy of the face and extremities. The radiologic features of these patients were acro-osteolysis, wide sutures and fontanelles, wormian bones, mandibular hypoplasia and avascular necrosis of the femoral heads. Other features were osteolysis of the clavicles, soft tissue calcification, osteoporosis and coxa valga, which have not been described in previous reported cases.