Two brothers with distal arthrogryposis, peculiar facial appearance, cleftpalate, short stature, hydronephrosis, retentio testis, and normal intelligence: A new type of distal arthrogryposis?

We report on two brothers, a 22-month-old boy and a 7-month-old boy, with m ultiple distal arthrogryposis (DA), peculiar facial appearance, cleft palat e, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes, The parents were cousins once removed. The combination of t he clinical manifestations in the patients and the lack of involvement in t heir parents are incompatible with any known types of DA, and suggest a new type of DA. The parental consanguinity in the family suggests that the dis order is an autosomal recessive condition, although X-linked inheritance is not ruled out. (C) 2000 Wiley-Liss, Inc.