Auriculoosteodysplasia

Clinical Features

Beals (1967) gave this designation to a syndrome that he observed in many members of 2 families. Multiple osseous dysplasia, characteristic ear shape, and somewhat short stature were features. Dysplasia of the radiocapitellar joint, with or without radial-head dislocation, was a constant finding. Inheritance was unequivocally autosomal dominant. Hip dysplasia was present in 4 of 13 affected females and in none of the males. Roentgenographic abnormalities at the wrist were pictured. Although the severity of the auricular anomaly varied, this feature alone distinguished the affected members in both families and was present at birth in the single newborn examined. Affected members were always identified on this basis by other family members. The distinguishing feature was elongation of the lobe which was attached and accompanied by a small, slightly posterior lobule. Radial heads, posterior dislocation of (179200), may be an independent mendelian trait, although it occurs also as a component of several syndromes, e.g., nail-patella syndrome (161200), OPD syndrome (311300), Noonan syndrome (163950), tarsal-carpal coalition syndrome (186570), and ophthalmomandibulomelic dysplasia (164900).

Mapping

Kimberling (1972) reported possible linkage of auriculoosteodysplasia to Rh and Duffy (which are now known to be on chromosome 1). Further studies of the original family and of another did not support linkage with chromosome 1 markers (Human Gene Mapping Workshop-4). Beals (1982) had heard of no other cases. He suggested that looking for the combination of radial head dislocations and hip dysplasia might be the best way to locate further cases. Identification of more families might be useful for pursuing the question of linkage.