%0 Journal Article
%T Growth Hormone Deficiency in a Case of Crouzon Syndrome with Hydrocephalus
%A Wen Mei-Hong
%A Hsiao Hui-Pin
%A Chao Mei-Chyn
%A Tsai Fuu-Jen
%J International Journal of Pediatric Endocrinology
%D 2010
%I BioMed Central
%R 10.1186/1687-9856-2010-876514
%X 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.
%U http://www.ijpeonline.com/content/2010/876514