Results 11 to 20 of about 66,813 (153)
Andalas Obstetrics and Gynecology Journal, 2021 Background: The term tanatophorik comes from the Greek word thanatophorus which means "innate death" or "bearing death". The problem that underlies this disease is the process of bone formation.
Vaulinne Basyir +2 more
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Thanatophoric Skeletal Dysplasia: A Case Report
Journal of Nepal Medical Association, 2020 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 ...
Firoz Anjum +2 more
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Andalas Obstetrics and Gynecology Journal, 2019 Tujuan: Melaporkan kasus thanatophoric dysplasia Metode: Laporan kasus Hasil: Kasus wanita berusia 25 tahun, dengan diagnosa G4P2A1H2 gravid preterm 31-32 minggu + polihidramnion + hidrops fetalis, janin hidup tunggal intrauterin dengan ...
Tria Sari Retno Asih, Roza Sriyanti
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Thanatophoric Skeletal Dysplasia Type 2: Diagnostic and Management Dilemmas [PDF]
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
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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
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A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester. [PDF]
Case Rep Obstet Gynecol, 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
Calongos G, Hori M, Ogino M, Sawai H.
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Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis. [PDF]
Sultan Qaboos Univ Med J, 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.
Marquis-Nicholson R, Aftimos S, Love DR.
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Development of individuals with thanatophoric dysplasia surviving beyond infancy. [PDF]
Pediatr Int, 2022 Ushioda M +4 more
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Lethal short limb dwarfism: thanatophoric dysplasia- type I. [PDF]
J Clin Diagn Res, 2014 Korday CS +3 more
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Revista Chilena de Obstetricia y GinecologíaThanatophoric dysplasia type 2 (TDII) is a rare and intractable genetic disease caused by de novo mutations in the FGFR3 gene, characterized by severe skeletal anomalies; this condition is lethal during the perinatal period and has a prevalence of 0.21-0.
Wilmar Saldarriaga +2 more
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