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Growth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus.
- Source :
-
International Journal of Pediatric Endocrinology . 2010, p1-4. 4p. 2 Black and White Photographs, 1 Diagram. - Publication Year :
- 2010
-
Abstract
- Crouzon syndrome is one of the most common craniofacial syndromes and is inherited as autosomal dominant with variable expression.We report an 11 and a half-year-old boy with Crouzon syndrome with severe growth retardation.He had hydrocephalus since infancy and recently suffered from frequent dizziness. His bone age was only 5 years according to the Greulich and Pyle atlas. Magnetic resonance imaging showed shallow orbits, obstructive hydrocephalus, and cerebellar tonsil herniation. Growth hormone provocative tests revealed a reduced peak growth hormone response in both insulin and clonidine tests. Severe iron deficiency anemia was noted at the same time.Molecular analysis identified a common mutation point of Cys278Phe for Crouzon syndrome in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene. Since growth retardation is not a common feature of Crouzon syndrome, we reviewed the literature for the incidence of hydrocephalus in Crouzon syndrome and the association with growth hormone deficiency. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 16879848
- Database :
- Academic Search Index
- Journal :
- International Journal of Pediatric Endocrinology
- Publication Type :
- Academic Journal
- Accession number :
- 63487092
- Full Text :
- https://doi.org/10.1155/2010/876514