Results 11 to 20 of about 12,084,964 (131)

Thanatophoric Dysplasia [PDF]

, 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, Gistin Husnul Khatimah, Yusrawati Yusrawati   +2 more
core   +1 more source

The unexpected presence of a huge cystic hygroma with thanatophoric dysplasia type I: a case report [PDF]

, 2015
Introduction: The presence of a thin-walled, multicystic structure posterior to the fetal head and neck with an intact vertebral column is known as a cystic hygroma. Thanatophoric dysplasia is the most lethal skeletal dysplasia.
Mohammed Khairy Ali, Ahmed M. Abbas, Abbas, Ahmed M., Diaa Eldeen M Abd El Aal, Ali, Mohammed Khairy, Shazly, Sherif A, Abd El Aleem, Mahmoud A. Mahmoud, Mahmoud A. Mahmoud Abd El Aleem, Sherif A Shazly, Abd El Aal, Diaa Eldeen M   +9 more
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Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD.
Chih-Ping Chen, Tung-Yao Chang, Tan-Wei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang   +7 more
doaj   +1 more source

Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report [PDF]

, 2020
Thanatophoric dysplasia is a lethal form of skeletal dysplasia seen in neonates. The word ‘thanatophoric’ is derived from the Greek word  thanatophorus meaning death bringing.
Ogbonna-Nwosu, C., Ezeanosike , O.B., Daniyan , O.W., Iloduba, U.C.   +3 more
core   +1 more source

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. Case Report: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal
Shin-Wen Chen, Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Pei-Chen Wu, Yen-Ni Chen, Chen-Ju Lin, Wen-Ling Chen, Wayseen Wang   +8 more
doaj   +1 more source

Thanatophoric Skeletal Dysplasia Type 2: Diagnostic and Management Dilemmas [PDF]

, 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 ...
Wibisono, Jacobus Jeno, Jacobus Jeno Wibisono, Dyana Safitri Velies, Velies, Dyana Safitri, Gezta Nasafir Hermawan, Hermawan, Gezta Nasafir   +5 more
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Thanatophoric Dysplasia [PDF]

, 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 ...
Roza Sriyanti, Tria Sari Retno Asih
core   +1 more source

K-Ras and β-catenin mutations cooperate with Fgfr3 mutations in mice to promote tumorigenesis in the skin and lung, but not in the bladder [PDF]

, 2011
The human fibroblast growth factor receptor 3 (FGFR3) gene is frequently mutated in superficial urothelial cell carcinoma (UCC). To test the functional significance of FGFR3 activating mutations as a ‘driver’ of UCC, we targeted the expression of mutated
Taketo, M.M., Leung, H.Y., Hing Y. Leung, Wu, X.-R., Iwata, T., Mona Foth, Morris, C.-A., Owen J. Sansom, Lukram Babloo Singh, Tomoko Iwata, Imran Ahmad, Carol-Ann Morris, Makoto Mark Taketo, Singh, L.B., Foth, M., Sansom, O.J., Xue-Ru Wu, Ahmad, I.   +17 more
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Thanatophoric dysplasia, an enigmatic dilemma: a case report [PDF]

, 2017
Thanatophoric dysplasia is a rare, fatal form of skeletal dysplasia that affects fetus in utero. It is characterized by marked underdevelopment of fetal skeleton and short limbs.
Rai, Chanda, Bajaj, Sunil Kumar, Gaikwad, Harsha Shailesh, Gupta, Rohini   +3 more
core   +1 more source

Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II

Taiwanese Journal of Obstetrics & Gynecology
Objective: We present perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking ...
Chih-Ping Chen, Jian-Pei Huang, Kun-Shuo Huang, Yi-Yung Chen, Fang-Tzu Wu, Yen-Ting Pan, Chien-Ling Chiu, Wayseen Wang   +7 more
doaj   +1 more source