Desbuquois syndromethree further cases and review of the literature

摘要

We report three further patients with similar clinical signs to those described by Desbuquoiset al.(Desbuquois G. Grenier B. Michel J. Rossignol C (1996): Arch Fr Peacute;diatr23: 573ndash;587) Two of the patients were born to consanguineous parent, confirming autosomal recessive inheritance of this condition. The patients presented with micromelic short stature, flat midface, irregular ossification of the vertebral bodies and an advanced bone age.