Radiographic and genetic diagnosis of sporadic hypochondroplasia early in the neonatal period.
Prenat Diagn
; 24(1): 45-9, 2004 Jan.
Article
em En
| MEDLINE
| ID: mdl-14755409
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.
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Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Diagnóstico Pré-Natal
/
Proteínas Tirosina Quinases
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
Idioma:
En
Ano de publicação:
2004
Tipo de documento:
Article