Geleophysic dysplasia: A report of three affected boys - Prenatal ultrasound does not detect recurrence

Rosser, EM, Wilkinson, AR, Hurst, JA, McGaughran, JM and Donnai, D (1995) Geleophysic dysplasia: A report of three affected boys - Prenatal ultrasound does not detect recurrence. American Journal of Medical Genetics, 58 3: 217-221. doi:10.1002/ajmg.1320580304


Author Rosser, EM
Wilkinson, AR
Hurst, JA
McGaughran, JM
Donnai, D
Title Geleophysic dysplasia: A report of three affected boys - Prenatal ultrasound does not detect recurrence
Journal name American Journal of Medical Genetics   Check publisher's open access policy
ISSN 0148-7299
Publication date 1995-01-01
Year available 1995
Sub-type Article (original research)
DOI 10.1002/ajmg.1320580304
Open Access Status Not yet assessed
Volume 58
Issue 3
Start page 217
End page 221
Total pages 5
Place of publication NEW YORK
Publisher WILEY-LISS
Language eng
Subject 2716 Genetics (clinical)
Abstract Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a ''happy'' facial appearance, and joint contractures. In-filtration 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. (C) 1995 Wiley-Liss, Inc.
Keyword autosomal recessive inheritance
geleophysic dysplasia
prenatal diagnosis
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Scopus Import - Archived
 
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