title: Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.
abstract: We report the first case of sporadic hypochondroplasia diagnosed in utero by computed tomography (CT) three-dimensional (3D) imaging and molecular analysis at 38 weeks' gestation. Prenatal sonographic examinations performed at 32 and 35 weeks' gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly. Based on these findings, a nonlethal form of skeletal dysplasia was suspected and a multislice CT imaging with 3D reconstruction was performed depicting skeletal abnormalities which suggested hypochondroplasia. The prenatal diagnosis was confirmed by DNA mutation analysis of the fibroblast growth receptor 3 gene.
authors.affiliation: Service de Radiologie, Hôpital François Mitterrand, Pau, France. olivierbonnefoy@hotmail.com
authors.forename: O
authors.initials: O
authors.lastname: Bonnefoy
authors.forename: J M
authors.initials: JM
authors.lastname: Delbosc
authors.forename: B
authors.initials: B
authors.lastname: Maugey-Laulom
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: D
authors.initials: D
authors.lastname: Gaye
authors.forename: F
authors.initials: F
authors.lastname: Diard
mesh_terms: D004252:DNA Mutational Analysis; D004392:Dwarfism / Q000175:diagnosis / Q000000981:diagnostic imaging*; D005260:Female; D005333:Fetus / Q000002:abnormalities / Q000000981:diagnostic imaging; D006801:Humans; D021621:Imaging, Three-Dimensional; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D014057:Tomography, X-Ray Computed / Q000379:methods*
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3