In:
Fetal Diagnosis and Therapy, S. Karger AG, Vol. 24, No. 4 ( 2008), p. 420-424
Abstract:
〈 i 〉 Objective: 〈 /i 〉 We report the first case of thanatophoric dysplasia (TD) successfully diagnosed in utero by a combination of 2-D ultrasound, computed tomography (CT) 3-D imaging and genetic analysis at 26 weeks’ gestation. 〈 i 〉 Methods: 〈 /i 〉 Prenatal sonographic examinations performed at 23 weeks’ gestation revealed micromelic shortening of the limbs, reduced thoracic cavity and a presence of cloverleaf skull deformity. Based on these findings, a lethal form of skeletal dysplasia was suspected and a helical CT imaging with 3-D reconstruction depicted skeletal abnormalities which suggested TD. The prenatal diagnosis was affirmed on amniotic fluid cells by DNA mutation analysis of the fibroblast growth factor receptor 3 gene. 〈 i 〉 Results: 〈 /i 〉 A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I. 〈 i 〉 Conclusion: 〈 /i 〉 Helical CT imaging with 3-D reconstruction and molecular testing are useful adjuncts to 2-D ultrasonography in the diagnosis of lethal skeletal dysplasias, allowing for appropriate perinatal support including genetic counseling.
Type of Medium:
Online Resource
ISSN:
1015-3837
,
1421-9964
Language:
English
Publisher:
S. Karger AG
Publication Date:
2008
detail.hit.zdb_id:
1482292-1
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