Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrence

Am J Med Genet. 1995 Sep 11;58(3):217-21. doi: 10.1002/ajmg.1320580304.


Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and joint contractures. Infiltration of heart valves and liver with a mucopolysaccharide-like substance has been demonstrated in some patients. A metabolic pathogenesis is suspected, but has not yet been identified. We report on 3 boys with the condition, 2 of whom are brothers. Serial ultrasound scans were performed on 2 of the cases during pregnancy, but short limbs did not become obvious until after 28 weeks of gestation, making it an uninformative procedure for prenatal diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics
  • Contracture / congenital
  • Contracture / diagnostic imaging*
  • Contracture / embryology
  • Dwarfism / embryology
  • Dwarfism / genetics*
  • Extremities / diagnostic imaging*
  • Extremities / embryology
  • Facies
  • Female
  • Hand Deformities, Congenital / diagnostic imaging*
  • Hand Deformities, Congenital / embryology
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital
  • Male
  • Pregnancy
  • Ultrasonography, Prenatal