Rosser E M, Wilkinson A R, Hurst J A, McGaughran J M, Donnai D
Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom.
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.
