Possible case of Pitt-Hopkins syndrome in sibs

In this article, we describe two sibs, a brother and sister, with severe me ntal retardation and multiple congenital anomalies including "coarse" facia l features, short stature, seizures, hypertrichosis, short great toes, and overbreathing. Comparison of these patients with previous reports suggests that they could represent the first familial cases of the Pitt-Hopkins synd rome. The recurrence in sibs within the same family supports autosomal rece ssive inheritance for the condition. Variable expression of the respiratory symptoms, which has not been reported earlier, is underlined. (C) 2001 Wil ey-Liss, Inc.