Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis [PDF]
Case Reports in Pediatrics, 2022 Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4.
Lamidi Audu +5 more
doaj +3 more sources
THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS
Неонатологія, хірургія та перинатальна медицина, 2023 Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided into types I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variants in the FGFR3
І. Ластівка +5 more
doaj +3 more sources
Thanatophoric dysplasia in nonadherent to antenatal care in low middle income country: a rare case reports. [PDF]
Ann Med Surg (Lond), 2023 Introduction and importance: Thanatophoric dysplasia is a rare, fatal, and sporadic form of skeletal dysplasia caused by a mutation in fibroblast growth factor receptor 3 (FGFR3).
Shrestha AB +10 more
europepmc +3 more sources
Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I [PDF]
Clinical and Experimental Obstetrics & Gynecology, 2020 Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses.
Q.C. Wu +6 more
doaj +3 more sources
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis [PDF]
Sultan Qaboos University Medical Journal, 2013 Objectives: Thanatophoric dysplasia (TD) is the most common form of lethal skeletal dysplasia. It is primarily an autosomal dominant disorder and is characterised by macrocephaly, a narrow thorax, short ribs, brachydactyly, and hypotonia.
Renate Marquis-Nicholson +2 more
doaj +6 more sources
P354: Vosoritide as a targeted therapy for FGFR3-related thanatophoric dysplasia [PDF]
Genetics in Medicine OpenBenjamin Cocanougher +7 more
doaj +3 more sources
Thanatophoric dysplasia: A case report [PDF]
MedwaveMyriam Elizabeth Jimbo Quizhpe +2 more
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Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India. [PDF]
CureusThanatophoric dysplasia (TD) is a severe and typically fatal skeletal disorder caused by mutations in the FGFR3 gene, often leading to perinatal death.
V P, Gambhir P, V S.
europepmc +4 more sources
Thanatophoric dysplasia, an enigmatic dilemma: a case report [PDF]
, 2017 Thanatophoric dysplasia is a rare, fatal form of skeletal dysplasia that affects fetus in utero. It is characterized by marked underdevelopment of fetal skeleton and short limbs.
Bajaj, Sunil Kumar +6 more
core +3 more sources
Thanatophoric Skeletal Dysplasia Type 2: Diagnostic and Management Dilemmas
Indonesian Journal of Obstetrics and Gynecology, 2023 (English) Objective: To report a rare case of thanatophoric skeletal dysplasia type 2 that we diagnosed during prenatal period; and to provide further review of dilemmas in diagnostic methods and management, based on appropriate literatures and ...
Gezta Nasafir Hermawan +2 more
doaj +2 more sources