Results 71 to 80 of about 1,628 (156)

The Role of Prenatal Ultrasound and Added Value of Post‐Mortem Radiographic Imaging With X‐Ray and CT in Suspected Fetal Skeletal Dysplasia

Prenatal Diagnosis, Volume 45, Issue 1, Page 77-88, January 2025.
ABSTRACT Objective This study aims to assess the diagnostic value of post‐mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort. Method Prenatal ultrasound findings and their association with post‐mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally
Katri Rajala, Sanna Toiviainen‐Salo, Outi Mäkitie, Vedran Stefanovic, Laura Tanner   +4 more
wiley   +1 more source

Fracture healing of the mandible is impaired in a Fgfr3N534K/+ mouse model of hypochondroplasia

Bone Reports, 2021
Anne Morice, Loisay Lea, Laurence Legeai Mallet   +2 more
doaj   +1 more source

Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes

Disease Models & Mechanisms, 2019
Schimke immuno-osseous dysplasia is an autosomal recessive genetic osteochondrodysplasia characterized by dysmorphism, spondyloepiphyseal dysplasia, nephrotic syndrome and frequently T cell immunodeficiency.
Giusj Monia Pugliese, Federico Salaris, Valentina Palermo, Veronica Marabitti, Nicolò Morina, Alessandro Rosa, Annapaola Franchitto, Pietro Pichierri   +7 more
doaj   +1 more source

An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination

Congenital Anomalies, Volume 65, Issue 1, January/December 2025.
Abstract The current case report presents the postmortem examination findings of a 17‐week‐old female fetus displaying thanatophoric dysplasia type 1 (TD‐1) due to a known fibroblast growth factor receptor 3 (FGFR3) gene mutation. Gross and X‐ray examination revealed significant abnormalities, including skeletal malformations with prominent TD‐1 femur ...
Ioanna Abba Deka, Paschalis Theotokis, Maria Eleni Manthou, Angeliki Mathioudi, Evangelia Athanasiou, Soultana Meditskou   +5 more
wiley   +1 more source

Progressive pseudorheumatoid dysplasia with new-found gene mutation of Wntl inducible signaling pathway protein 3

Pediatric Rheumatology Online Journal, 2018
Background As one kind of osteochondrodysplasia, progressive pseudorheumatoid dysplasia (PPD) is also known as spondyloepiphyseal dysplasia tarda with progressive arthropathy or arthropathy progressive pseudorheumatoid of childhood.
Wenji Chen, Shiyan Mo, Gui Luo, Yanyan Wang, Xiaohu Deng, Jian Zhu, Wei Zhao   +6 more
doaj   +1 more source

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

Pfeiffer syndrome type 2: case report

São Paulo Medical Journal
OBJECTIVE: To report on a case of Pfeiffer Syndrome, with a discussion of the diagnostic characteristics and features of disease types and the differential diagnosis.
Maria Kiyoko Oyamada, Haideé Salgado Alonso Ferreira, Marcelo Hoff   +2 more
doaj   +1 more source

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

, 2013
KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden ...
Agrawal, Pankaj B., Luquette, Lovelace J., Harris, David J., Brownstein, Catherine A., Meinecke, Peter, Campeau, Philippe M., Beggs, Alan H., Marinakis, Nicholas S., Towne, Meghan C., Margulies, David M., Kutsche, Kerstin, Yu, Timothy W.   +11 more
core   +1 more source

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide [PDF]

, 2020
© 2020, The Author(s). Previously we reported the identification of a homozygous COL27A1 (c.2089G\u3eC; p.Gly697Arg) missense variant and proposed it as a founder allele in Puerto Rico segregating with Steel syndrome (STLS, MIM #615155); a rare ...
Bayram, Y., Nistala, H., Gezdirici, A., Yuan, B., Gonzaga-Jauregui, C., Yesil, G., Tegay, D. H., +27 additional authors, Nannuru, K. C., Pehlivan, D., Lupski, J. R.   +10 more
core   +1 more source