Results 41 to 50 of about 143,001 (214)

Prenatal Diagnosis of Skeletal Dysplasia and Review of the Literature

Case Reports in Obstetrics and Gynecology, 2021
Introduction. Obstetric ultrasonography is routinely used to screen for fetal anomalies. Thanatophoric dysplasia (TD) is one of the common though rare lethal skeletal dysplasia, detected during routine ultrasound scan. TD is caused by a mutation in FGFR3
Bashiru Babatunde Jimah, Teresa Aba Mensah, Kofi Ulzen-Appiah, Benjamin Dabo Sarkodie, Dorothea Akosua Anim, Emmanuella Amoako, Evelyn Antwiwaa Gyamfi   +6 more
doaj   +1 more source

A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia. [PDF]

Hum Mol Genet, 2012
Jin M, Yu Y, Qi H, Xie Y, Su N, Wang X, Tan Q, Luo F, Zhu Y, Wang Q, Du X, Xian CJ, Liu P, Huang H, Shen Y, Deng CX, Chen D, Chen L.   +17 more
europepmc   +3 more sources

Thanatophoric Skeletal Dysplasia: A Case Report

Journal of Nepal Medical Association, 2020
Thanatophoric skeletal dysplasia is the most lethal, rare, sporadic birth defect due to de novo mutation in the fibroblast growth factor receptor-3. Clinically this is characterized by shortening of the limbs (micromelia), small conical thorax, flat ...
Firoz Anjum, Sunil Kumar Daha, Ganesh Sah   +2 more
doaj   +1 more source

Case Report: Thanatophoric dysplasia

F1000Research, 2023
Thanatophoric dysplasia (TD) is a rare and lethal skeletal dysplasia caused by a de novo mutation in the fibroblast growth factor receptor 3 gene (FGFR3), with a frequency range of 1 in 20,000 to 50,000.
Aakriti Poudel, Manish Upreti, Asmita Pantha   +2 more
semanticscholar   +1 more source

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2022
Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes.
Hwa Young Kim, Jung Min Ko
doaj   +1 more source

National survey of prevalence and prognosis of thanatophoric dysplasia in Japan. [PDF]

Pediatr Int, 2019
Thanatophoric dysplasia (TD) is a rare congenital disease of the skeletal system, with an incidence of 1.68–8.3 per 100 000 births, but statistical data on the estimated number of TD patients across Japan are not available.
Sawai H, Oka K, Ushioda M, Nishimura G, Omori T, Numabe H, Kosugi S.   +6 more
europepmc   +2 more sources

Thanatophoric Dysplasia: A Case Report and Literature Review

SAS Journal of Surgery, 2023
Thanatophoric dysplasia is a lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limbed dwarfism [1]. The child will present with a short neck, narrow chest, and prominent abdomen.
A. Benamar, S. Boudhas, M. Idrissi, M. K. Saoud, N. Mamouni, S. Errarhay, C. Bouchikhi, A. Banani   +7 more
semanticscholar   +1 more source

First case of thanatophoric dysplasia type 1 in the Peruvian Andes with pathogenic variant in the FGFR3 gene

Revista de la Facultad de Medicina Humana, 2023
Thanatophoric dysplasia type 1 is a form of lethal skeletal dysplasia, characterized by axial-appendicular skeletal disproportions as well as short stature, frontal bossing, cloverleaf skull, narrow chest, femoral bowing, and micromelia. These phenotypic
Carlos Hugo Torres Salinas, Yesenia Ledesma Porras   +1 more
semanticscholar   +1 more source

Unveiling the Mystery of Thanatophoric Dysplasia: A Case Report on Clinical and Radiological Correlation in a Low-Antenatal Care Setting

Annals of PIMS-Shaheed Zulfiqar Ali Bhutto Medical University
Thanatophoric Dysplasia (TD) is a rare, lethal skeletal dysplasia caused by FGFR3 gene mutations, leading to severe bone and cartilage abnormalities. TD is classified into two subtypes: Type 1, characterized by bowed femurs and a normal skull, and Type 2,
Muhammad Hamza, Zohaib Rasheed, Shehbano Syed, Javeria Abbas, Sara Asif, Asad Ullah Wasim   +5 more
openalex   +3 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 & 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.
Liangcheng Wang, Yasushi Takai, Kazunori Baba, Yukiko Mikami, Masahiro Saito, Isao Horiuchi, Ryo Konno, Kenjiro Takagi, Hiroyuki Seki   +8 more
doaj   +1 more source