Results 41 to 50 of about 66,813 (153)

Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I

Clinical and Experimental Obstetrics & Gynecology, 2020
Objective: To analyze the fibroblast growth factor receptor 3 gene (FGFR3) mutations in fetuses with thanatophoric dysplasia type I (TD1) and to provide additional data for genotype-phenotype analyses.
Q.C. Wu, W.B. Wang, L. Sun, Y.S. Xu, X.J. Xie, X.M. Ma, Z.Y. Su   +6 more
doaj   +1 more source

A rare case of neonatal dwarfism – Answer

Journal of Pediatric and Neonatal Individualized Medicine, 2022
We show a case of thanatophoric dysplasia (TD), in which the diagnosis was allowed by the identification of pathognomonic aspects at physical examination and by the whole body radiography.
Manuela Gallo, Valentina Ibba, Lucrezia Giua Marassi, Luisa Anedda, Maria Antonietta Marcialis, Maria Cristina Pintus   +5 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Advances in FGF/FGFR Signaling: Implications for Disease and Therapy

MedComm, Volume 7, Issue 9, September 2026.
The FGF/FGFR signaling is indispensable for the maintenance of physiological homeostasis and governs multiple biological processes, including embryonic development, bone metabolism, angiogenesis, and neurogenesis, whereas aberrant hyperactivation of this pathway drives the progression of malignancies and autoimmune disorders, including inflammatory ...
Miaoyu Song, Xi Liu, Yang Xiao, Yongsheng Li, Huakan Zhao   +4 more
wiley   +1 more source

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa, León‐Madero Luis Felipe, Jiménez‐Chaidez Salvador, Gallardo‐Gaona Juan Manuel, Rodríguez‐Sibaja María Jose, Castañeda‐de‐la‐Fuente Angelica, Del Castillo‐Reyes Katia Alejandra, Yañez‐Felix Ana Lucia, Morales‐Dominguez Valeria, Borboa‐Olivares Héctor Jesús, Sevilla‐Montoya Rosalba   +10 more
wiley   +1 more source

산전초음파로 진단된 Thanatophoric Dysplasia 1례

, 1996
Thanatophoric dysplasia is a lethal disease which is characterized by marked shortening of the extremities, norrow thorax, bowed long boned and polyhydramnios.
송, 찬호, 오, 기석, 양, 정인, 정, 태영   +3 more
core   +1 more source

Genetically-determined familial recurrent thanatophoric dysplasia [PDF]

, 1970
Summary Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10000 births.
Szułczyński, Jarosław, Moszczyńska, Katarzyna, Ludwikowski, Grzegorz, Dubiel, Mariusz, Lauda-Świeciak, Anna, Tretyn, Andrzej, Skórczewski, Jacek   +6 more
core  

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1372-1377, June 2026.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

산전 초음파로 진단된 Thanatophoric Dysplasia

, 1996
Thanatophoric dysplasia is a diseae which is characterized by short-extremites, bowed long bone, narrow thorax and relatively large cranium. Short-limbs, hypoplastic lung and macrocrania are diagnostic features in prenatal sonographic findings.
안, 은주, 송, 찬호, 오, 기석, 김, 미란, 양, 정인, 정, 태영, 김, 행수   +6 more
core   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1273-1285, June 2026.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source