title: Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynaecology, G. Gaslini Institute, University of Genova, Genova, Italy. biasiode@libero.it
authors.forename: P
authors.initials: P
authors.lastname: De Biasio
authors.forename: F
authors.initials: F
authors.lastname: Prefumo
authors.forename: M
authors.initials: M
authors.lastname: Baffico
authors.forename: M
authors.initials: M
authors.lastname: Baldi
authors.forename: M
authors.initials: M
authors.lastname: Priolo
authors.forename: M
authors.initials: M
authors.lastname: Lerone
authors.forename: P
authors.initials: P
authors.lastname: Tomà
authors.forename: P L
authors.initials: PL
authors.lastname: Venturini
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000097:blood / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013796:Thanatophoric Dysplasia / Q000097:blood / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000196:embryology; D016216:Ultrasonography, Prenatal
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3