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 associated with shortening of soft tissues. The patients were three males and four females including two siblings. The average age at first examination was 6 months (range, 1-17 months) and that at the time of follow-up was 7 years (range, 13 months-11 years). The characteristics were short-limb type short stature, congenital multiple angulation deformities 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 maturation, 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 with any of the bent bone dysplasia group. Caffey's report [Caffey J (1947). Am J Dis Child 74:543-5621 included two different subtypes of bent bones, round bowing and sharp angulation, and the latter are similar to this report. However, Caffey's cases lack limitation of ankle dorsiflexion and reduced skin creases. An autosomal recessive mode of inheritance could be present in this subtype.