BENIGN FORM OF CONGENITAL ANGULATION OF LONG BONES ASSOCIATED WITH SHORTENING OF SOFT-TISSUES

We report a benign form of congenital angulation of long bones associa ted with shortening of soft tissues, The patients were three males and four females including two siblings. The average age at first examina tion was 6 months (range, 1-17 months) and that at the time of follow- up was 7 years (range, 13 months-ii years), The characteristics were s hort-limb type short stature, congenital multiple angulation deformiti es of the long bones of both upper and lower extremities, with almost the same angulation directions for all the patients and improvement of the deformities with age. There was also accelerated skeletal maturat ion, lack of epi-metaphyseal lesions, skin dimples, limitation of the ankle joint dorsiflexion, and inconspicuousness of skin creases on the flexor side of the elbow and knee. This phenotype is not consistent w ith any of the bent bone dysplasia group. Caffey's report [Caffey J (1 947). Ant J Dis Child 74:543-562] included two different subtypes of b ent bones, round bowing and sharp angulation, and the latter are simil ar to this report. However, Caffey's cases lack limitation of ankle do rsiflexion and reduced skin creases. An autosomal recessive mode of in heritance could be present in this subtype.