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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 +7 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 +5 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 +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 +4 more sources
Thanatophoric dysplasia in identical twins. [PDF]
Journal of Medical Genetics, 1989 Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.
Alexander S. Knisely
+8 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 +2 more sources
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 +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]
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 +2 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 +3 more sources
Journal of Diagnostic Medical Sonography, 1994 A case of thanatophoric dysplasia was reported in the fetus of a 39-year-old woman. The diagnosis was made on ultrasound examination at 21 weeks of gestation, when shortened long bones, cloverleaf skull, and narrow thorax were observed. Due to the lethality of this type of dwarfism, the pregnancy was terminated.
Wendy Schade Griffis
openalex +3 more sources