Geleophysic dysplasia: A report of three affected boys—prenatal ultrasound does not detect recurrence
✍ Scribed by Rosser, Elisabeth M. ;Wilkinson, Andrew R. ;Hurst, Jane A. ;McGaughran, Julie M. ;Donnai, Dian
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 468 KB
- Volume
- 58
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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. W e 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.