title: Syndromic craniosynostosis with elbow joint contracture.
abstract: This paper reports a new type of syndromic craniosynostosis that was diagnosed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, a male infant had ocular proptosis, a pseudotail, and obstructed respiration. He developed craniosynostosis, craniofacial dysmorphism, hydrocephalus, and bilateral contracture of his elbow joints. His treatment included fronto-orbital advancements and a ventriculoperitoneal shunt. Genetic analysis revealed that he was heterozygous for a missense mutation in exon 9 of the FGFR2 gene that resulted in an amino acid substitution of cysteine for serine at residue 351 (Ser351Cys). Seven cases with this mutation had previously been reported. All had severe craniosynostosis with midface hypoplasia, elbow joint contracture, developmental retardation, and early death.
authors.affiliation: Department of Neurosurgery, Kanazawa Medical University, Ishikawa, Japan. akai@kanazawa-med.ac.jp
authors.forename: Takuya
authors.initials: T
authors.lastname: Akai
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Hideaki
authors.initials: H
authors.lastname: Iizuka
authors.forename: Shigehiko
authors.initials: S
authors.lastname: Kawakami
authors.forename: Jun
authors.initials: J
authors.lastname: Yoshida
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Kakinuma
authors.forename: Yuuki
authors.initials: Y
authors.lastname: Yaguchi
authors.forename: Tesuo
authors.initials: T
authors.lastname: Ozawa
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D003286:Contracture / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics*; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics*; D004551:Elbow Joint / Q000503:physiopathology*; D005091:Exons; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D019957:Motor Skills Disorders / Q000150:complications / Q000235:genetics; D020125:Mutation, Missense; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D013577:Syndrome
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2