Results 31 to 40 of about 143,001 (214)

Development of individuals with thanatophoric dysplasia surviving beyond infancy. [PDF]

Pediatr Int, 2022
Background This study aimed to analyze the physical and psychosocial development of long‐term survivors (age >1 year) of thanatophoric dysplasia (TD).
Ushioda M, Sawai H, Numabe H, Nishimura G, Shibahara H.   +4 more
europepmc   +2 more sources

Lethal Short Limb Dwarfism: Thanatophoric Dysplasia- Type I [PDF]

Journal of Clinical and Diagnostic Research, 2014
Charusheela Sujit Korday, Ravindra Kumar Sharma, Sonali Paradhi, Sushma Malik   +3 more
doaj   +2 more sources

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   +2 more sources

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination. [PDF]

Congenit Anom (Kyoto)
The current case report presents the postmortem examination findings of a 17‐week‐old female fetus displaying thanatophoric dysplasia type 1 (TD‐1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation.
Abba Deka I, Theotokis P, Manthou ME, Mathioudi A, Athanasiou E, Meditskou S.   +5 more
europepmc   +2 more sources

Thanatophoric dysplasia: a case report [PDF]

International Journal of Reproduction Contraception Obstetrics and Gynecology, 2019
Thanatophoric Dysplasia (TD) is a congenital, sporadic and most lethal skeletal dysplasia caused by new mutation in FGFR3 gene. Authors report such a rare case of a term alive baby with dysmorphic features, born to an unbooked, 40 years old G4P3+0 with ...
Gupta, Neena, Gupta, Shruti, Jahan, Uruj, Rajput, Ankita, Sharma, Astha, Usmani, Fatima   +5 more
core   +3 more sources

Antenatal diagnosis of Thanatophoric dysplasia: a case report and review of literature [PDF]

, 2017
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. Foetus has short neck, narrow thoracic cage and protruberant abdomen.
Kocherla, Keerthi, Kocherla, Vasantha
core   +3 more sources

A Rare Case: Genetically Confirmed Newborn with Thanatophoric Dysplasia Type 1 (TD1) [PDF]

International Journal of Genetics and Genomics, 2021
Thanatophoric dysplasia (TD) is the most frequent sporadic lethal skeletal dysplasia with an incidence about 1 in 17.000–50.000 births. Diagnosis of TD can made at prenatal period by ultrasound and immediately after birth based on clinical examination ...
I Gusti Ayu Dwi Aryani, I Made Arimbawa, Made Kardana, Ni Nyoman Ayu Dewi, Pande Putu Yuli Anandasari   +4 more
openalex   +2 more sources

Variable Antenatal Sonographic Findings of Thanatophoric Dysplasia- A Case Series [PDF]

Journal of Clinical and Diagnostic Research, 2020
Thanatophoric dysplasia is a lethal osteochondral dysplasia which occurs sporadically in 1/64,000-100,000 total live births and it is very common of the congenital lethal skeletal dysplasias.
Richa Verma, Navneet Sharma
doaj   +1 more source

P613: A multiplexed targeted PCR and single nucleotide extension assay for the 14 most common thanatophoric dysplasia I and II mutations

Genetics in Medicine Open, 2023
Mohamed Jama, Scott Reading, Eric Fredrickson, Yuan Ji   +3 more
doaj   +2 more sources

Thanatophoric dysplasia type I: a rare case report at fetal autopsy. [PDF]

J Lab Physicians, 2014
Davanageri RS, Shokeen PD, Bannur HB, Patil KP.   +3 more
europepmc   +2 more sources