Separating monosomy-21 from the "arthrogryposis basket"

J Can Assoc Radiol. 1981 Dec;32(4):220-3.

Abstract

An infant with monosomy-21 lived for 20 minutes. The clinical and radiologic findings suggested arthrogryposis, Infants with monosomy-21 have severe intrauterine growth retardation, failure to thrive, arthrogryposis-like findings with restriction of joint mobility, often with joint dislocations, and flexion deformities and malposition of the fingers and toes. Features which help to distinguish it from arthrogryposis include a rather specific craniofacial configuration with a broad base of the nose, an antimongoloid slant of the palpebral fissures, a down-turning mouth shaped like that of a carp, micrognathia, and large low-set ears. The condition is not associated with advanced maternal age. Radiologic findings to date have been quite variable.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Arthrogryposis / diagnostic imaging*
  • Bone and Bones / diagnostic imaging*
  • Chromosome Aberrations / diagnostic imaging*
  • Chromosome Disorders
  • Chromosomes, Human, 21-22 and Y*
  • Diagnosis, Differential
  • Foot Deformities, Congenital*
  • Humans
  • Infant, Newborn
  • Joint Dislocations / congenital*
  • Joint Dislocations / diagnostic imaging
  • Radiography
  • Spine / abnormalities
  • Syndrome