Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation

Prenatal Diagnosis

Volumn 20, Issue 10, 2000, Pages 835-837

  De Biasio, Pierangela ^a,c   Prefumo, Federico ^a   Baffico, Maria ^b   Baldi, Maurizia ^b   Priolo, Manuela ^a   Lerone, Margherita ^a   Tomà, Paolo ^a   Venturini, Pier Luigi ^a  

^a UNIVERSITY OF GENOA   (Italy)

^b GALLIERA HOSPITAL   (Italy)

^c NONE   (Italy)

Author keywords

Chorionic villus sampling; FGFR3; Thanatophoric dysplasia; Ultrasound

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR;

ADULT; ARTICLE; CASE REPORT; CHONDRODYSPLASIA; CHORION VILLUS SAMPLING; DIFFERENTIAL DIAGNOSIS; DNA SEQUENCE; ECHOGRAPHY; FEMALE; FETUS; GENE MUTATION; GENOME; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SECOND TRIMESTER PREGNANCY; THANATOPHORIC DWARFISM;

ADULT; CHORIONIC VILLI SAMPLING; DIAGNOSIS, DIFFERENTIAL; FEMALE; FETAL DISEASES; HUMANS; POINT MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, SECOND; PRENATAL DIAGNOSIS; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; THANATOPHORIC DYSPLASIA; ULTRASONOGRAPHY, PRENATAL;

EID: 0033753277     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200010)20:10<835::AID-PD903>3.0.CO;2-N     Document Type: Article

References (24)

1. First-trimester diagnosis of fetal abnormalities. A report of three cases
2. Prenatal sonographic assessment of the fetal thorax: Normal values
3. Bone dysplasias: The prenatal diagnostic challenge
4. Prenatal diagnosis of lethal dwarfism using ultrasound
5. Prenatal sonographic diagnosis of thanatophoric dwarfism
6. Thanatophoric dwarfism
7. Thanatophoric dysplasia and cloverleaf skull
8. Normal sonographic appearance of a thanatophoric dwarf variant fetus at 13 weeks gestation
9. Le nanisme thanatophore
10. The birth prevalence rates for the skeletal dysplasias
11. Genomic organization of the human fibroblast growth factor receptor 3 (FGFR3) gene and comparative sequence analysis with the mouse Fgfr3 gene
12. Epidemiology of osteochondrodysplasias: Changing trends due to advances in prenatal diagnosis
13. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
14. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results
15. Antenatal sonographic diagnosis of thanatophoric dysplasia: A report of three cases and a review of the literature with special emphasis on the differential diagnosis
16. Thanatophoric dwarfism
17. Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type 1
18. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
19. Antenatal diagnosis of lethal skeletal dysplasias
20. Some variants of lethal neonatal shortlimbed platyspondilic dysplasia: A radiological, ultrasonographic, neuropathological and histopathological study of 22 cases
21. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia
22. Prenatal diagnosis of thanatophoric dwarfism in second trimester: A case report