A new hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna

Abstract

An autosomal dominant hereditary bone dysplasia was observed in three members of a Sardinian family living in Germany--the father and two sons. The guiding clinical symptom is thickening of the wrist proximal to the styloid process of the ulna. The radiologically recognizable changes--non-calcified cartilaginous islands protruding like cones into the metaphysis--begin with the onset of puberty and are not always associated with pain. Varying degrees of thickening and bowing of the relatively poorly mineralized metaphyseal region, particularly of the distal ulna, occur at the end of skeletal development. Thickening of the dorsum sellae is also characteristic. Serum calcium levels remain slightly elevated throughout life. The metatarsals, metacarpals and the distal fibula are dysplastic to varying degrees. The two boys display a coxa valga. Skeletal development is retarded. A developmental disorder of the vertebral column may form part of the condition, which defied allocation to any of the acknowledged forms of skeletal disease.

A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: Possible metaphyseal chondrodysplasia‐rosenberg

“…A very rare autosomal dominant entity described by Rosenberg and Löhr [1986] has features similar to those of our patient. This form of MCD had thickening of the wrist proximal to the styloid process of the ulna.…”

“…We report the mother–son transmission of a skeletal dysplasia consisting of unusual and unique metaphyseal changes of the long bones. The findings are not compatible with the well‐known types of MCD, and most closely resemble the patients reported by Rosenberg and Löhr [1986].…”

“…The authors described a wedge deformity and platyspondyly of the vertebral bodies in the affected patients. We feel the spine changes described by Rosenberg and Löhr [1986] are within the normal range. There was a characteristic thickening of the dorsum sella and sclerosis of the sella floor in some of the affected patients.…”

Osteopathia striata, short stature, and characteristic facies: a previously unknown skeletal dysplasia

“…In terms of the combination of thickened dorsum sellae, spondylar modi®cation and metaphyseal abnormalities,``metaphyseal-sella turcica dysplasia'' reported by Rosenberg and Lohr [10] should be dierentiated from our cases' condition. In this entity, however, metaphyseal changes were composed of cystic radiolucencies rather than OS and con®ned to the wrist.…”