Under the designation omodysplasia, Maroteaux et al. (1989) described 3 cases of a 'new' congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, and long philtrum) with short humeri. (Omodysplasia etymologically means shoulder ... Under the designation omodysplasia, Maroteaux et al. (1989) described 3 cases of a 'new' congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, and long philtrum) with short humeri. (Omodysplasia etymologically means shoulder dysplasia: the 'omo' comes from the Greek word for shoulder.) The complex skeletal abnormalities consisted of a defect in the growth of the distal end of the humerus, a hypoplastic everted condyle, a proximal radioulnar diastasis, and an anterolateral dislocation of the head of the radius. A mother and her infant son were 2 of the 3 cases. Two other cases had micromelic dwarfism due to shortness of the long bones, particularly the femora; Maroteaux et al. (1989) considered that these cases represented variable expression of the same disorder; see OMOD1 (258315). Venditti et al. (2002) described a family with mother-to-son transmission of omodysplasia. The mother, who had originally been diagnosed with Robinow syndrome (180700), had shortened humeri, shallow olecranon fossae with partially subluxed radii, shortened first metacarpals, and small, laterally displaced patellae. She also had a large forehead, hypertelorism, a depressed nasal bridge, maxillary hypoplasia, and hypoplastic genitalia. Her intellectual and motor development were normal. Prenatal ultrasound of her son at 13 to 14 weeks showed delayed humeral ossification. A repeat study at 20 weeks showed shortened humeri and genitalia that were not assignable to either gender. At birth, he was noted to have facial and skeletal features similar to those of his mother and hypoplastic genitalia with a small penis, bifid scrotum, and undescended testes.
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