title: Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period.
abstract: Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs. This manifestation leads to restricted prenatal diagnosis of the disorder. We report here on a sporadic case of a hypochondroplastic baby, whose prenatal sonographic measurements were serially recorded from 19 weeks of gestation. Mild shortening of the limbs became manifest after 26 weeks of gestation. Biparietal diameter was within the normal range throughout gestation. Both parents were of average stature. A tentative diagnosis of a nonlethal short-limb skeletal dysplasia was made. At birth, the clinical manifestations of the neonate were not characteristic, but the radiographic features raised the possibility of hypochondroplasia. Molecular analyses revealed a C to G mutation at nucleotide 1659 of the fibroblast growth factor receptor 3 (FGFR3) gene, a common mutation in hypochondroplasia.
authors.affiliation: Department of Obstetrics and Gynecology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Soromon
authors.initials: S
authors.lastname: Kataoka
authors.forename: Hideaki
authors.initials: H
authors.lastname: Sawai
authors.forename: Hideto
authors.initials: H
authors.lastname: Yamada
authors.forename: Nozomi
authors.initials: N
authors.lastname: Kanazawa
authors.forename: Koji
authors.initials: K
authors.lastname: Koyama
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Mamoru
authors.initials: M
authors.lastname: Morikawa
authors.forename: Noriaki
authors.initials: N
authors.lastname: Sakuragi
authors.forename: Hisanori
authors.initials: H
authors.lastname: Minakami
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D011247:Pregnancy; D011263:Pregnancy Trimester, Third; D011296:Prenatal Diagnosis; D011505:Protein-Tyrosine Kinases; D011859:Radiography; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3