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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
doaj +9 more sources
Thanatophoric Dysplasia – Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound [PDF]
Journal of Medical Ultrasound, 2023 Skeletal dysplasias form an assorted cluster of bone dysplasias that result in atypical and aberrant skeletal size and shape. The case discussed here was diagnosed as thanatophoric dysplasia during the second-trimester ultrasound examination and the ...
Ranjit Singh Lahel +2 more
doaj +4 more sources
Spontaneous Rupture of Unscarred Uterus in a Term Primagravida with Lethal Skeletal Dysplasia Fetus (Thanatophoric dysplasia). A Case Report and Review of the Literature [PDF]
International Medical Case Reports Journal, 2022 Ahmed Issak Hussein,1 Abdikarim Ali Omar,1 Hodan Abdi Hassan,1 Mohamed Mukhtar Kassim,2 Abdisalam Abdullahi Yusuf,2 Ahmed Adam Osman3 1Obstetrics and Gynecology Department, Mogadishu Somalia Turkish Training and Research Hospital, Mogadishu, Somalia ...
Hussein AI +5 more
doaj +5 more sources
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
doaj +6 more sources
Thanatophoric dysplasia- a case report [PDF]
The Pan African Medical Journal, 2020 A case of thanatophoric dysplasia with sudden death at term is hereby presented. Thanatophoric dysplasia is an uncommon, lethal skeletal dysplasia which is associated with mutation in the extracellular region of fibroblast growth factor receptor 3 (FGFR3)
Olusoji Edward Jagun +4 more
doaj +6 more sources
Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor [PDF]
Palliative Medicine Reports, 2020 Thanatophoric dysplasia (TD) is a rare skeletal dysplasia commonly thought to be lethal. In this case report, we discuss a nine-year-old male with TD and review his parents' decision making shortly after their son was born, the technology needed to ...
Ricki S. Carroll +5 more
doaj +5 more sources
A case of thanatophoric dysplasia type I with an R248C mutation in the gene [PDF]
Korean Journal of Pediatrics, 2010 Thanatophoric dysplasia (TD) is a short-limb neonatal dwarfism syndrome that is usually lethal in the perinatal period. It is characterized by shortening of the limbs, severely small thorax, large head with a prominent forehead, macrocephaly, curved ...
Eun Jung Noe +3 more
doaj +7 more sources
Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study [PDF]
Autopsy and Case Reports, 2014 Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967.
Éber Emanuel Mayoral +5 more
doaj +3 more sources
Thanatophoric Dysplasia: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 Thanatophoric Dysplasia (TD) is a congenital, sporadic and the most lethal skeletal dysplasia caused by new mutation in the FGFR3 gene. At birth, it is characterized by shortening of the limbs (micromelia), small conical thorax, platyspondyly (flat ...
Manisha Sharma +3 more
doaj +4 more sources
Thanatophoric Dysplasia: A Rare Entity [PDF]
Oman Medical Journal, 2011 Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen.
N.S. Naveen +4 more
doaj +4 more sources