Results 61 to 70 of about 1,854 (192)

Spondyloenchondrodysplasia: a rare cause of short stature

The Turkish Journal of Pediatrics, 2011
Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature.
Gül Yeşiltepe-Mutlu, Elif Ozsu, Filiz Mine Cizmecioğlu, Yasemin Alanay, Sükrü Hatun   +4 more
doaj  

Displasia espondilometafisaria tipo Kozlowski

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
La displasia espondilometafisaria Kozlowski es un tipo de displasia ósea, que está comprendida dentro de un grupo de desórdenes que afecta fundamentalmente la metáfisis de huesos tubulares, con preferencia por la columna vertebral. Está caracterizada por
Elayne Esther Santana Hernández, Víctor Jesús Tamayo Chang   +1 more
doaj  

Prevalence and Risk Factors of Depression in Patients With Endemic Osteoarthritis Kashin–Beck Disease

Depression and Anxiety, Volume 2025, Issue 1, 2025.
Background: Kashin–Beck disease (KBD) is an endemic osteoarthropathy, which occurs in children aged 3–12, with similarity to osteoarthritis (OA). Previous studies have shown significant depression symptoms in OA patients, yet no comparable research has been conducted in KBD patients. Methods: We conducted a field investigation in KBD areas in Northwest
Ye Liu, Yan Wen, Zhengjun Yang, Ruixue Zhou, Jingni Hui, Cheng Li, Gangyao Xu, Chan Liu, Huan Liu, Bolun Cheng, Yumeng Jia, Xianni Guo, Feng Zhang, Ruhai Bai   +13 more
wiley   +1 more source

Geometric growth of the normal human craniocervical junction from 0 to 18 years old

Journal of Anatomy, Volume 245, Issue 6, Page 842-863, December 2024.
This research investigates the growth dynamics of the craniocervical junction (CCJ) in children. By compiling geometric models of normal skull base growth and analysing closure patterns of synchondroses and sutures, it reveals distinct developmental trajectories and covariations between CCJ bones.
Juliette Raoul‐Duval, Angèle Ganet, Sandro Benichi, Pauline Baixe, Clara Cornillon, Lou Eschapasse, Maya Geoffroy, Giovanna Paternoster, Syril James, Sébastien Laporte, Thomas Blauwblomme, Roman H. Khonsari, Maxime Taverne   +12 more
wiley   +1 more source

Known pathogenic gene variants and new candidates detected in sudden unexpected infant death using whole genome sequencing

American Journal of Medical Genetics Part A, Volume 194, Issue 11, November 2024.
Abstract The purpose of this study is to gain insights into potential genetic factors contributing to the infant's vulnerability to Sudden Unexpected Infant Death (SUID). Whole Genome Sequencing (WGS) was performed on 144 infants that succumbed to SUID, and 573 healthy adults.
Angela M. Bard, Lindsay V. Clark, Erdal Cosgun, Kimberly A. Aldinger, Andrew Timms, Lely A. Quina, Juan M. Lavista Ferres, David Jardine, Elisabeth A. Haas, Tatiana M. Becker, Chelsea M. Pagan, Avni Santani, Diego Martinez, Soumitra Barua, Zakkary McNutt, Addie Nesbitt, Edwin A. Mitchell, Jan‐Marino Ramirez   +17 more
wiley   +1 more source

Novel COL11A1 mutation in familial Stickler syndrome [PDF]

, 2021
Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities.
Enomoto, Keisuke, Harada, Hiroyuki, Imoto, Issei, Kashimada, Kenichi, Kohmoto, Tomohiro, Masuda, Kiyoshi, Morio, Tomohiro, Morita, Kei-ichi, Naruto, Takuya, Tsuji, Atsumi   +9 more
core  

Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I

Acta Médica del Centro, 2015
Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It
Ana Esther Algora Hernández, Noel Taboada Lugo, Lourdes Rodríguez Royero, Eliecer Anoceto Armiñana   +3 more
doaj  

Vergleich und Klassifikation der [PDF]

, 2005
The short rib polydactyly dysplasia group is part of the Defects of the tubular (and flat) bones and/or axial skeleton, which is a subdivision of the Osteochondrodysplasias.
Jarrar, Samir
core  

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Iranian Journal of Medical Sciences, 2016
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction.
Efat Khorasani, Rahim Vakili
doaj  

Management of progressive genu varum in a patient with Dyggve-Melchior-Clausen syndrome [PDF]

, 1997
We describe the orthopaedic management of progressive genu varum in a child who manifested the full phenotypic characterization of Dyggve-Melchior-Clausen ...
Kenis, Vladimir, Baindurashvili, Alexey, Melchenko, Evgeniy, Grill, Franz, Al Kaissi, Ali   +4 more
core   +2 more sources