Thanatophoric dysplasia: Antenatal to postmortem
Journal of the Scientific Society, 2015 Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest.
Chanabasappa V Chavadi +4 more
doaj +3 more sources
A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester [PDF]
Case Reports in Obstetrics and Gynecology, 2016 During a routine prenatal exam, a 36-year-old female in her third pregnancy was diagnosed with fetal hydrops at 11 weeks of gestation. The pregnancy was monitored with periodic ultrasounds; however, spontaneous resolution was not observed. Amniotic fluid
Giannina Calongos +3 more
doaj +2 more sources
Thanatophoric skeletal dysplasia: A case report [PDF]
Clinical Case Studies and Reports, 2019 Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat vertebral bodies and macrocephaly at birth. We encountered a similar case with ultrasonographic findings
Firoz Anjum +2 more
openalex +5 more sources
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. [PDF]
Biophys J, 2015 Del Piccolo N, Placone J, Hristova K.
europepmc +3 more sources
Thanatophoric dysplasia: a rare entity [PDF]
International Journal of Reproduction, Contraception, Obstetrics and Gynecology, 2014 Thanatophoric dysplasia (TD), a rare and lethal skeletal dysplasia of neonatal period. Two clinical forms of Thanatophoric dysplasia have been described. TD is caused by specific autosomal dominant mutations in the gene that codifies for the Fibroblast Growth Factor Receptor 3 (FGFR3).
Kiran Pandey +3 more
openaire +3 more sources
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies. [PDF]
Hum Mol Genet, 2018 Kunova Bosakova M +14 more
europepmc +3 more sources
Lethal Short Limb Dwarfism: Thanatophoric Dysplasia- Type I [PDF]
Journal of Clinical and Diagnostic Research, 2014 Charusheela Sujit Korday +3 more
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Thanatophoric Dysplasia With Concurrent Hydroureteronephrosis: A Rare Case Report From Rural Southern India. [PDF]
CureusV P, Gambhir P, V S.
europepmc +2 more sources
Systemic epidermal nevus with involvement of the oral mucosa due to
BMC Medical Genetics, 2011 Background Epidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated. Case presentation We report a female patient with
Clemmensen Ole J +4 more
doaj +6 more sources