title: Growth hormone deficiency in a case of crouzon syndrome with hydrocephalus.
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.
authors.affiliation: Department of Pediatrics, Kaohsiung Municipal United Hospital, Kaohsiung 813, Taiwan.
authors.forename: Mei-Hong
authors.initials: MH
authors.lastname: Wen
authors.forename: Hui-Pin
authors.initials: HP
authors.lastname: Hsiao
authors.forename: Mei-Chyn
authors.initials: MC
authors.lastname: Chao
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai