Results 71 to 80 of about 66,813 (153)

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

Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection

Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.
ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing   +12 more
wiley   +1 more source

Fibroblast Growth Factor Receptor 3 (FGFR3)–Analyses of the S249C Mutation and Protein Expression in Primary Cervical Carcinomas

Analytical Cellular Pathology, 2001
Fibroblast growth factor receptor 3 (FGFR3) seems to play an inhibitory role in bone development, as activating mutations in the gene underlie disorders such as achondroplasia and thanatophoric dysplasia. Findings from multiple myeloma (MM) indicate that
Haiyan Dai, Ruth Holm, Gunnar B. Kristensen, Vera M. Abeler, Anne‐Lise Børresen‐Dale, Åslaug Helland   +5 more
doaj   +1 more source

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2). Case Report: A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation
Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +5 more
doaj   +1 more source

Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria:

Nigerian Journal of Paediatrics
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.
Daniyan OW, Ezeanosike OB, Ogbonna-Nwosu C, Iloduba UC   +3 more
doaj  

Displasia tanatofórica: Reporte de un caso y revisión Thanatophoric Dysplasia: A case report and review

Revista Colombiana de Obstetricia y Ginecología, 2008
Objetivo: presentar los hallazgos ecográficos de la displasia tanatofórica (DT) y su diagnóstico diferencial, desde el punto de vista del ultrasonido con la acondroplasia.
Alejandro Giraldo-Cuartas
doaj  

A 6-year Experience of Fetal Skeletal Anomalies Prenatal Diagnosis at Anomaly Clinic, Siriraj Hospital

Siriraj Medical Journal, 2006
Objective: The purposes of this study were to review the prevalence of skeletal dysplasias among fetal anomaly cases and to demonstrate common findings detected prenatally by ultrasonography. Methods: Twenty prenatal cases diagnosed of skeletal anomalies
Kusol Russameecharoen, Buraya Phattanachindakun, Siripong Swasdimongkol, Chanchai Vantanasiri, Sommai Viboonchard   +4 more
doaj  

Thanatophoric Dysplasia: a Case Report of Recurrence

, 2005
Thanatophoric dysplasia is a sporadic lethal neonatal dwarfism characterized by shortening of the limbs, macrocephaly, pear-shaped thorax and short ribs. It occurs with an estimated frequency of about 0.3-0.5 in 10000 births.
Üstün, Yusuf, Şengül, Muzaffer, Üstün, Engin Yaprak, Kamacı, Mansur, Zeteroğlu, Şahin, Şahin, Hanım Güler   +5 more
core  

Fgf receptor 3 activation promotes selective growth and expansion of occipitotemporal cortex

Neural Development, 2009
Background Fibroblast growth factors (Fgfs) are important regulators of cerebral cortex development. Fgf2, Fgf8 and Fgf17 promote growth and specification of rostromedial (frontoparietal) cortical areas.
Marques Catia S, Fernandes Ana C, Kennedy John, Etherson Michelle L, Graham Nicholas A, Kind Peter C, Thomson Rachel E, Hevner Robert F, Iwata Tomoko   +8 more
doaj   +1 more source

Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Sciberras, Carmel, Zammit, Jason, Attard, Gerhardt   +2 more
core