Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature. [PDF]
Clin Case RepABSTRACT Stuve‐Wiedemann Syndrome (SWS) is a rare autosomal recessive condition, first reported in 1971 by Stuve and Wiedemann. It is associated with pathogenic or likely pathogenic homozygous or compound heterozygous variants in the Leukemia Inhibitory Factor Receptor (LIFR) gene.
Hamasharef KH +4 more
europepmc +2 more sources
Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report. [PDF]
Mol Genet Genomic MedA novel COL9A3 splice‐site variant was identified in a 14‐year‐old male misdiagnosed with juvenile idiopathic arthritis, confirming multiple epiphyseal dysplasia and emphasizing molecular testing as the key to unlocking accurate diagnosis in genetically heterogeneous skeletal disorders.
Alnuaimi B +5 more
europepmc +2 more sources
Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders. [PDF]
Acta PaediatrABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Zhan S +8 more
europepmc +2 more sources
Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature. [PDF]
Adv Genet (Hoboken)The current study describes a novel type of brachydactyly, characterized by absent phalanges in the toes. Whole genome sequencing identified rare missense variants in the BMP8A and FGFR1 genes, both of which are known to play a role in bone development. Bioinformatic and protein network analysis support their involvement in bone deformities.
Hunter L, Ilyas M.
europepmc +2 more sources
Stuve-wiedemann syndrome in a child: a case report [PDF]
, 2023 Introduction: Stüve-Wiedemann Syndrome was first described in 1971. However, this disease was considered a single entity only a few years later. The syndrome is now known to be an autosomal recessive disorder in which the patient has dysautonomia, bone ...
Alvarenga, Marcela Rodrigues da Cunha +7 more
core +2 more sources
Ischiopubic and odontoid synchondrosis in a boy with progressive pseudorheumatoid chondrodysplasia [PDF]
, 2007 Purpose To present the case of a 14-year-old boy with clinical and radiographic features of pseudorheumatoid chondrodyspalsia with additional, potentially serious, cervical malformations.
Ben Ghachem Maher +4 more
core +2 more sources
What is new in genetics and osteogenesis imperfecta classification?
Jornal de Pediatria (Versão em Português), 2014 Objective: Literature review of new genes related to osteogenesis imperfecta (OI) and update of its classification. Sources: Literature review in the PubMed and OMIM databases, followed by selection of relevant references.
Eugênia R. Valadares +4 more
doaj +3 more sources
Hearing impairment in Stickler syndrome: a systematic review [PDF]
, 2012 BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance ...
Acke, Frederic +3 more
core +2 more sources
An immunohistochemical study of thanatophoric dysplasia type 1 after fetus autopsy examination. [PDF]
Congenit Anom (Kyoto)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 ...
Abba Deka I +5 more
europepmc +2 more sources
Ischiofemoral impingement due to a solitary exostosis
Journal of the Belgian Society of Radiology, 2015 Ischiofemoral impingement is a rare cause of hip pain related to narrowing of the space between the ischial tuberosity and the lesser trochanter. It is usually seen in middle-aged women.
J. Schatteman +3 more
doaj +1 more source