Results 71 to 80 of about 2,306,494 (185)

Expanding the Clinical Spectrum of DHX30‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich, Areerat Hnoonual, Oradawan Plong‐On, Pornprot Limprasert   +3 more
wiley   +1 more source

Multi‐exon COL5A1 deletion in a child with classical Ehlers–Danlos syndrome: A case report expanding the allelic spectrum and showing evidence of parental gonosomal mosaicism

Clinical Case Reports, 2022
Classical Ehlers–Danlos syndrome (cEDS) is a rare inherited autosomal dominant connective tissue disorder with core clinical features including skin hyperextensibility, abnormal scarring, and generalized joint hypermobility.
Sonja Strang‐Karlsson, Sylvia Keigwin, Anna‐Kaisa Anttonen, Duncan Baker, Kerry Bean, Eveliina Jakkula   +5 more
doaj   +1 more source

Understanding the Reproductive Life Planning Experiences of People With Disabilities in Ontario, Canada: A Qualitative Exploration

Perspectives on Sexual and Reproductive Health, EarlyView.
ABSTRACT Introduction Reproductive life planning can be a valuable component of reproductive health promotion. However, little is known about attitudes, desires, and intentions regarding pregnancy among people with disabilities. This exploratory qualitative study aimed to understand the reproductive life planning experiences of women and gender‐diverse
Momina Khan, Hilary K. Brown, Yona Lunsky, Lesley A. Tarasoff   +3 more
wiley   +1 more source

The GoodHope Exercise and Rehabilitation (GEAR) Program for People With Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders

Frontiers in Rehabilitation Sciences, 2021
Introduction: The Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorders (G-HSD) comprise a heterogeneous group of genetic disorders of abnormal synthesis and/or maturation of collagen and other matricellular proteins.
Nimish Mittal, Nimish Mittal, Daniel Santa Mina, Daniel Santa Mina, Daniel Santa Mina, Stephanie Buryk-Iggers, Stephanie Buryk-Iggers, Laura Lopez-Hernandez, Laura Hussey, Alyssa Franzese, Joel Katz, Joel Katz, Joel Katz, Joel Katz, Camille Laflamme, Laura McGillis, Lianne McLean, Maxim Rachinsky, Dmitry Rozenberg, Dmitry Rozenberg, Maxwell Slepian, Aliza Weinrib, Hance Clarke, Hance Clarke, Hance Clarke   +24 more
doaj   +1 more source

Musculoskeletal Phenotypes of 19 Patients With X‐Linked HNRNPH2‐Related Neurodevelopmental Disorder: A Prospective Case Series

American Journal of Medical Genetics Part A, Volume 200, Issue 12, Page 2708-2718, December 2026.
ABSTRACT Detailed clinical phenotypes have been previously reported for 33 individuals with X‐linked HNRNPH2‐related neurodevelopmental disorder. Of these, 75% self‐reported a musculoskeletal abnormality, including hip dysplasia, scoliosis, kyphosis, lordosis, pes planus, arthritis, and missing spinous processes.
Ambar Garcia, Rachel Salazar, Nicole Holuba, Franklin E. Paulino, Michael G. Vitale, Jennifer M. Bain, Joshua Hyman   +6 more
wiley   +1 more source

The Impact of Pain on Everyday Activities of People With Hypermobility Spectrum Disorders or Hypermobility Ehlers Danlos Syndrome

European Journal of Pain
ABSTRACTBackgroundThis study describes aspects of pain and how pain affects everyday life and examines the relation between chronic pain and activity limitations in people with hypermobility spectrum disorders (HSD) or hypermobility Ehlers Danlos syndrome (hEDS).MethodsThis cross‐sectional study used data from 2016 to 2021 obtained from the Swedish ...
Susanne Lindholm, Suzanne Petersson, Peter Molander, Mathilda Björk   +3 more
openaire   +4 more sources

Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population

BJPsych Open, 2017
Background Generalised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD ...
Martin Glans, Susanne Bejerot, Mats B. Humble   +2 more
doaj   +1 more source

An investigation of body awareness, fatigue, physical fitness, and musculoskeletal problems in young adults with hypermobility spectrum disorder

, 2022
Background and objectives: Hypermobility Spectrum Disorder (HSD) is associated with excessive joint range of motion and the presence of musculoskeletal symptoms.
Yildiz, Ramazan, Yildiz, Ayse, Burak, Mustafa, Mustafa Burak, ERTURAN, Sinem, Ayse Yildiz, Bulent Elbasan, ELBASAN, BÜLENT, UZUN AKKAYA, KAMİLE, Akkaya, KAMİLE, Kamile Uzun Akkaya, Sinem Erturan, Ramazan Yildiz   +12 more
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2396-2404, October 2026.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT We report a 3‐year‐old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous COL6A1 variant (c.2821C>T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational ...
Khadeeja Nofal, Hamza M. A. Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta   +5 more
wiley   +1 more source