Unusual Forms of Familial Osteochondrodystrophy

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Abstract
Two patients were sister and brother; the 3rd had a brother similarly affected. There was dwarfism, pectus carinatum, kyphosis, while the extremities were noticeably long and well developed. The most important skeletal changes consisted in defective ossification of the bodies of the vertebrae, with kyphosis and scoliosis; defective development of the eplphysis of the head of the femur, widened acetabulum, besides minor changes in shoulder- and knee-joints reminding of local malacias. In 2 of the cases there was also defective development of the eplphyseal centers in the distal end of the forearm and in the metacarpals. In contrast to the cases described by Morquio, Rugglea and Brailsford the skeletal changes in the extremities were markedly different in the different cases. A comparison with chondrodystrophy showed considerable differences between the 2 conditions. It is suggested that the affection ia due to some endocrine derangement and represents a condition intermediate between achondroplasia and the local malacias. No autopsies were performed.

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