Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis.
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.
Bonnefoy
O
O
Service de Radiologie, Hôpital François Mitterrand, Pau, France. olivierbonnefoy@hotmail.com
Delbosc
J M
JM
Maugey-Laulom
B
B
Lacombe
D
D
Gaye
D
D
Diard
F
F
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*
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3