Results 51 to 60 of about 848 (140)

Thanatophoric dysplasia- a rare cause of stillbirth and perinatal mortality: a case report [PDF]

, 2021
Lethal skeletal dysplasia is estimated to occur in 0.95 per 10,000 deliveries. Thanatophoric dysplasia affects about 1in 25000 to 50000 births. The term thanatophoric is Greek word for “death bearing”.
Lobo, Anandi, Agrawal, Rishi, Agrawal, Priti   +2 more
core   +1 more source

Intervertebral Disc Proteoglycans: Multifunctional Tissue Stabilizing and Instructional Cell Regulatory Proteins That Control Tissue Homeostasis

JOR SPINE, Volume 8, Issue 4, December 2025.
Matrix and cell‐associated proteoglycans are important tissue‐stabilizing, weight‐bearing, and tension‐resisting proteins in the intervertebral disc. Their glycosaminoglycan components have growth factor binding and cell‐instructive properties that allow cells to regulate tissue composition and function.
James Melrose
wiley   +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
core   +1 more source

Displasia tanatofórica de grado II: reporte de un caso y revisión de la literatura

Perinatología y Reproducción Humana, 2015
La displasia tanatofórica (DT) es la osteocondrodisplasia más letal que existe en el periodo neonatal. Se caracteriza por miembros cortos, macrocefalia, tronco de longitud normal y tórax estrecho con hipoplasia pulmonar.
S. Hernández-Bojorge, Z. Niguelie Cawich, C. Briceño-Santamaría, N.J. Pavón-Gómez   +3 more
doaj   +1 more source

Phosphoinositide Metabolism: Biochemistry, Physiology and Genetic Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Phosphatidylinositol, a glycerophospholipid with a myo‐inositol head group, can form seven different phosphoinositides (PItds) by phosphorylation at inositol carbons 3, 4 and/or 5. Over 50 kinases and phosphatases participate in PItd metabolism, creating an interconnected PItd network that allows for precise temporal and spatial regulation of ...
Francis Rossignol, Foudil Lamari, Grant A. Mitchell   +2 more
wiley   +1 more source

Short Limbs, Earlier Diagnosis: Antenatal Presentation of Cornelia de Lange Syndrome [PDF]

, 2018
Case Study: Short Limbs, Earlier Diagnosis: Antenatal Presentation of Cornelia de Lange Syndrome. 30-year old female presented at 35 weeks gestation to Maternal-Fetal Medicine with intrauterine growth restriction (IUGR) • 9 weeks: Demise of two fetuses ...
Plenty, Nicole, Schoenfeld, Ellen E
core   +1 more source

Congenital malformation in green turtle embryos and hatchlings

Journal of Experimental Zoology Part A: Ecological and Integrative Physiology, Volume 341, Issue 8, Page 925-936, October 2024.
– We aimed to examine and characterize the congenital malformations observed in green turtle nests. – We conducted the study in 2022 and examined 907 green turtle nests on Samandağ beach, eastern Mediterranean. – We recorded a total of 2986 instances of congenital malformations, with a prevalence of 39% and a severity rate of 3.8%.
Bektaş Sönmez, Özlem Sağol
wiley   +1 more source

Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type III short rib-polydactyly syndrome (SRPS) (Verma-Naumoff).
Chih-Ping Chen, Schu-Rern Chern, Tung-Yao Chang, Yi-Ning Su, Yi-Yung Chen, Jun-Wei Su, Wayseen Wang   +6 more
doaj   +1 more source

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders

Prenatal Diagnosis, Volume 44, Issue 10, Page 1179-1197, September 2024.
Abstract Objective Prenatal exome sequencing (pES) is now commonly used in clinical practice. It can be used to identifiy an additional diagnosis in around 30% of fetuses with structural defects and normal chromosomal microarray analysis (CMA). However, interpretation remains challenging due to the limited prenatal data for genetic disorders. Method We
Christel Thauvin‐Robinet, Aurore Garde, Julian Delanne, Caroline Racine, Thierry Rousseau, Emmanuel Simon, Michel François, Sebastien Moutton, Odent Sylvie, Chloe Quelin, Godelieve Morel, Alice Goldenberg, Anne‐Marie Guerrot, Gabriella Vera, Nicolas Gruchy, Cindy Colson, Odile Boute, Carine Abel, Audrey Putoux, Jeanne Amiel, Agnes Guichet, Bertrand Isidor, Caroline Deiller, Constance Wells, Caroline Rooryck, Marine Legendre, Christine Francannet, Rodolphe Dard, Sabine Sigaudy, Ange‐Line Bruel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Sophie Nambot, Marie‐Laure Humbert Asensio, Christine Binquet, Yannis Duffourd, Antonio Vitobello, Christophe Philippe, Laurence Faivre, Frédéric Tran‐Mau‐Them, Nicolas Bourgon   +40 more
wiley   +1 more source

A calf with ectrodactyly and micromelia: A case report

, 1997
Bu vaka takdiminde melez bir erkek buzağıda görülen ectrodactyly ile birlikte şekillenmiş micromelia tanımlandı. Ruminantlardaki kongenital anomaliler kalıtsal, çevresel, yada her iki faktörün müşterek etkilerinin bir sonucu olarak ortaya çıkar ...
Tuzcu, Mehmet, Oğurtan, Zeki, Koç, Yılmaz, Alkan, Fahrettin   +3 more
core