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(1975)
Daentl DL: Hypochondroplasia
- Publisher
- Karger
- Copyright
- © 2006 S. Karger AG, Basel
- ISSN
- 1015-3837
- eISSN
- 1421-9964
- DOI
- 10.1159/000089042
- Publisher site
- See Article on Publisher Site
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.
Journal
Fetal Diagnosis and Therapy – Karger
Published: Dec 1, 2005
Keywords: Fibroblast growth factor receptor 3 gene; Hypochondroplasia; Prenatal diagnosis; Multislice computed tomography imaging