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Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation
Author(s) -
De Biasio Pierangela,
Prefumo Federico,
Baffico Maria,
Baldi Maurizia,
Priolo Manuela,
Lerone Margherita,
Tomà Paolo,
Luigi Venturini Pier
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200010)20:10<835::aid-pd903>3.0.co;2-n
Subject(s) - chorionic villus sampling , fibroblast growth factor receptor 3 , dysplasia , gestation , prenatal diagnosis , fetus , osteochondrodysplasia , differential diagnosis , medicine , pathology , biology , obstetrics , pregnancy , genetics , receptor , fibroblast growth factor
Thanatophoric dysplasia is the most common type of lethal skeletal dysplasia. It can usually be diagnosed with ultrasound, but differential diagnosis with other osteochondrodysplasias is not always possible. Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been demonstrated to cause two distinct subtypes of the disorder. We describe a case of thanatophoric dysplasia type I diagnosed at 18 weeks of gestation by ultrasonography. Genomic DNA obtained by chorionic villus sampling showed a C to G substitution at position 746 in the FGFR3 gene, resulting in a Ser249Cys substitution already known to be associated with type I disease. Implications for perinatal management are discussed. Copyright © 2000 John Wiley & Sons, Ltd.