Acrodysplasia With Ossification Abnormalities, Short Stature, And Fibular Hypoplasia

Castriota-Scanderbeg et al. (1999) presented a southern Italian girl in whom the most striking manifestations were short stature and changes in the bones of the hands and feet (acrodysplasia) with severe brachydactyly and severe ossification delay. Other findings included fibular hypoplasia, epiphyseal changes at multiple sites, and characteristic changes of the spine and pelvis. The parents were first cousins, suggesting autosomal recessive inheritance. Some of the radiologic features were similar to those demonstrated by 3 brothers, who also had consanguineous parents, reported by Eiken et al. (1984). Because of distinctive features in their case and in the cases of Eiken et al. (1984), Castriota-Scanderbeg et al. (1999) suggested that these families had similar, but probably different, disorders.