Results 31 to 40 of about 1,628 (156)

Case report: A novel de novo loss of function variant in the DNA-binding domain of TBX2 causes severe osteochondrodysplasia

Frontiers in Genetics, 2023
Background: T-box family members are transcription factors characterized by highly conserved residues corresponding to the DNA-binding domain known as the T-box. TBX2 has been implicated in several developmental processes, such as coordinating cell fate,
Misbahuddin M. Rafeeq, Hussam Aly Sayed Murad, Najumuddin, Samee Ullah, Zaheer Ahmed, Qamre Alam, Muhammad Bilal, Alaa Hamed Habib, Ziaullah M. Sain, Muhammad Jawad Khan, Muhammad Umair, Muhammad Umair   +11 more
doaj   +1 more source

Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings

Oman Medical Journal, 2015
Wolcott-Rallison syndrome (WRS) is an autosomal recessive disease, characterized by neonatal or early-onset non-autoimmune insulin-dependent diabetes. WRS, although rare, is recognized to be the most frequent cause of neonatal-onset diabetes.
Siham Al-Sinani, Saif Al-Yaarubi, SW Sharef, Fathyia Al-Murshedi, Watfa Al-Maamari   +4 more
doaj   +1 more source

Pseudoachondroplasia: A case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2013
Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity
Radlović Vladimir, Smoljanić Željko, Radlović Nedeljko, Jakovljević Miroslav, Leković Zoran, Dučić Siniša, Pavićević Polina   +6 more
doaj   +1 more source

CONGENITAL OSTEOCHONDRODYSPLASIA – A CASE REPORT [PDF]

, 2017
Congenital osteochondrodysplasia is a rare inborn disorder of the development and growth of bone and cartilage. Its incidence in children is 2–3/10,000.
Rexhepi, Sylejman, Krasniqi, Xhevdet, Bajraktari, Ismet H., Kryeziu, Avni   +3 more
core   +1 more source

Measures of self-care independence for children with osteochondrodysplasia: A clinimetric review

, 2011
This systematic review evaluates the validity, reliability, and clinical utility of outcome measures used to assess self-care skills among children with congenital musculoskeletal conditions and assesses the applicability of these measures for children ...
Ireland, Penelope, Leanne M. Johnston, Penelope Ireland, Johnston, Leanne M.   +3 more
core   +1 more source

Cantu syndrome and hypopituitarism: implications for endocrine monitoring

Endocrinology, Diabetes & Metabolism Case Reports, 2019
Cantu syndrome, or hypertrichotic osteochondrodysplasia, is a rare, autosomal dominant genetically heterogeneous disorder. It is characterized by hypertrichosis, cardiac and skeletal anomalies and distinctive coarse facial features.
Nicholas J Theis, Toby Calvert, Peter McIntyre, Stephen P Robertson, Benjamin J Wheeler   +4 more
doaj   +1 more source

Partial deletion of the sulfate transporter SLC13A1 is associated with an osteochondrodysplasia in the Miniature Poodle breed. [PDF]

PLoS ONE, 2012
A crippling dwarfism was first described in the Miniature Poodle in Great Britain in 1956. Here, we resolve the genetic basis of this recessively inherited disorder.
Mark W Neff, John S Beck, Julie M Koeman, Elissa Boguslawski, Lisa Kefene, Andrew Borgman, Alison L Ruhe   +6 more
doaj   +1 more source

American Journal of Medical Genetics Part A / Piepkorn type of osteochondrodysplasia : defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit

, 2018
The Piepkorn type of lethal osteochondrodysplasia (POCD) is a rare and lethal dwarfing condition. Four cases have been reported to date. The characteristic features are distinctly shortened “flipperlike” limbs, polysyndactyly, excessive underossification,
Schild, Ralf L., Schoner, Katharina, Jana Behunova, Katharina Schoner, Juergen Neesen, Rapp, Christiane, Laccone, Franco, Helga Rehder, Bald, Rainer, Neesen, Juergen, Ralf L. Schild, Schulze, Bernt, Behunova, Jana, Christiane Rapp, Rehder, Helga, Kircher, Susanne G., Franco Laccone, Susanne G. Kircher, Rainer Bald, Bernt Schulze   +19 more
core   +1 more source

Osteochondrodysplasia in three Scottish Fold cats [PDF]

, 2007
This report explains typical radiographic features of Scottish Fold osteochondrodysplasia. Three Scottish Fold cats suffering from lameness were referred to the Veterinary Medical Teaching Hospital, Seoul National University, Korea.
Kim, Haksang, Jung, Joohyun, Kim, Gyeongmin, Choi, Min Cheol, Lee, Sungok, Kweon, Oh Kyeong, Yoon, Junghee, Chang, Jinhwa, Oh, Sunkyoung   +8 more
core  

Chondromas and multiple enchondromatosis

Гений oртопедии, 2021
Introduction The chondromas are a cartilaginous proliferation of mature appearance and moderate size, reason why these tumors are regarded more like hamartomas than real benign tumor. Chondromas represent 10 to 12 % of benign bone tumors. Any bone of an
Pierre Lascombes, Laurence Mainard-Simard   +1 more
doaj   +1 more source