Results 1 to 10 of about 1,140 (104)

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor. [PDF]

Palliat Med Rep, 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 ...
Carroll RS, Duker AL, Schelhaas AJ, Little ME, Miller EG, Bober MB.   +5 more
europepmc   +2 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]

Int Med Case Rep J, 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, Omar AA, Hassan HA, Kassim MM, Yusuf AA, Osman AA.   +5 more
europepmc   +2 more sources

Thanatophoric dysplasia: a case report. [PDF]

Pan Afr Med J, 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)
Jagun OE, Olusola-Bello MA, Adekanmbi AF, Jagun OO, Oduwole T.   +4 more
europepmc   +2 more sources

Thanatophoric Dysplasia: A Case Report. [PDF]

J Clin Diagn Res, 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 ...
Sharma M, Jyoti, Jain R, Devendra.
europepmc   +2 more sources

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis. [PDF]

Case Rep Pediatr, 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.
Audu L, Gambo A, Baduku TS, Farouk B, Yahaya A, Jacob K.   +5 more
europepmc   +2 more sources

Thanatophoric Dysplasia - Rare Fatal Skeletal Dysplasia Detected on Prenatal Ultrasound. [PDF]

J Med Ultrasound
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 ...
Lahel RS, Kumar S, Mishra RK.
europepmc   +2 more sources

Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study. [PDF]

Autops Case Rep, 2014
Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967.
Mayoral ÉE, Schultz R, Rosemberg S, Suzuki L, de Oliveira LAN, Kay FU.   +5 more
europepmc   +2 more sources

Thanatophoric dysplasia: a rare entity. [PDF]

Oman Med J, 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.
Naveen NS, Murlimanju BV, Kumar V, Pulakunta T, Jeeyar H.   +4 more
europepmc   +2 more sources

Can biparietal diameter-to-femur length ratio be a useful sonographic marker for screening thanatophoric dysplasia since the first trimester? A literature review of case reports and a retrospective study based on 10,293 routine fetal biometry measurements

Taiwanese Journal of Obstetrics and Gynecology, 2017
Objective: The aim of the study was to determine whether the biparietal diameter/femur length (BPD/FL) ratio can be used to detect thanatophoric dysplasia in the first trimester of pregnancy.
Hiroyuki Seki, Yasushi Takai, Liangcheng Wang   +2 more
exaly   +3 more sources

A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene. [PDF]

Korean J Pediatr, 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 ...
Noe EJ, Yoo HW, Kim KN, Lee SY.
europepmc   +2 more sources