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

Am J Med Genet. 2000 Apr 10;91(4):280-5.

Abstract

We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence and karyotypes. The parents were cousins once removed. The combination of the clinical manifestations in the patients and the lack of involvement in their 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 disorder is an autosomal recessive condition, although X-linked inheritance is not ruled out.

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / diagnosis*
  • Arthrogryposis / diagnostic imaging
  • Arthrogryposis / genetics
  • Blepharoptosis / diagnosis*
  • Blepharoptosis / genetics
  • Body Height / genetics*
  • Child, Preschool
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics
  • Cleft Palate / surgery
  • Consanguinity
  • Cryptorchidism / diagnosis*
  • Cryptorchidism / genetics
  • Face / abnormalities
  • Fingers / abnormalities
  • Foot Deformities, Congenital / diagnosis
  • Foot Deformities, Congenital / diagnostic imaging
  • Foot Deformities, Congenital / genetics
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant
  • Intelligence / genetics
  • Male
  • Nuclear Family
  • Radiography