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Case Reports
. 1995 Sep 11;58(3):217-21.
doi: 10.1002/ajmg.1320580304.

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

E M Rosser  1 , A R Wilkinson, J A Hurst, J M McGaughran, D Donnai
Affiliations
Case Reports

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

E M Rosser et al. Am J Med Genet. .

Abstract

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.

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  • Geleophysic dysplasia vs. Myhre syndrome.
    Figuera LE. Figuera LE. Am J Med Genet. 1996 Nov 11;65(4):361-2. doi: 10.1002/(SICI)1096-8628(19961111)65:4<361::AID-AJMG25>3.0.CO;2-R. Am J Med Genet. 1996. PMID: 8923952 No abstract available.

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