Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis

Vol. 21, No. 1, 2006

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Paper

Prenatal Diagnosis of Hypochondroplasia: Three-Dimensional Multislice Computed Tomography Findings and Molecular Analysis
O. Bonnefoy^a, J.M. Delbosc^b, B. Maugey-Laulom^c, D. Lacombe^d, D. Gaye^c, F. Diard^c

^aServices de Radiologie, Hôpital François Mitterrand, Pau;
^bService de Gynécologie-Obstétrique, Hôpital Bagatelle, Bordeaux; Services de
^cRadiologie A et
^dGénétique, Hôpital Pellegrin, CHR Bordeaux, France

Address of Corresponding Author

Fetal Diagn Ther 2006;21:18-21 (DOI: 10.1159/000089042)

Key Words

Hypochondroplasia
Prenatal diagnosis
Multislice computed tomography imaging
Fibroblast growth factor receptor 3 gene

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.

Author Contacts

O. Bonnefoy, MD
Service de Radiologie, Hôpital François Mitterrand
Boulevard Hauterive
FR-64000 Pau (France)
Tel. +33 559 927 557, Fax +33 559 726 734, E-Mail olivierbonnefoy@hotmail.com

Article Information

Received: July 28, 2004
Accepted after revision: October 15, 2004
Number of Print Pages : 4
Number of Figures : 2, Number of Tables : 0, Number of References : 18

Medline Abstract (ID 16354969)

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