PEDIATRICS Vol. 75 No. 4 April 1985, pp. 786-789
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An Autosomal Recessive Bone Dysplasia Syndrome Resembling Hypochondroplasia

LARRY W. DESCH MD1 and WILLIAM A. HORTON MD2

1 Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City
2 Departments of Medicine and Pediatrics, University of Kansas School of Medicine, Kansas City

Hypochondroplasia is an autosomal dominant skeletal dysplasia characterized by mild-to-moderate shortening of the limbs, a stocky build, lordosis, and occasionally mental deficiency.1-4 Hall and Spranger5 have recently defined distinct radiographic criteria for the diagnosis of this condition. We wish to describe two siblings of normal parents whose features are quite similar to those of individuals with hypochondroplasia. The characteristics that these siblings exhibited are distinguishable from hypochondroplasia by subtle radiographic differences as well as the differing inheritance pattern.

The mother and father of these two girls are, respectively, 167.6 cm and 180.3 cm tall. The third and fourth children in this family, a girl and a boy, have normal stature.