Results 11 to 20 of about 1,602 (170)

Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia

Journal of Anaesthesiology Clinical Pharmacology, 2013
Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM), also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till
Rudrashish Haldar, Prakhar Gyanesh, Sukhen Samanta   +2 more
doaj   +2 more sources

Spondyloenchondrodysplasia: a rare cause of short stature [PDF]

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   +3 more sources

Genetic Evidence of a Recent Decline and Crossbreed Distribution of TRPV4 c.1024G>T Variant in Domestic Cats. [PDF]

Anim Genet
ABSTRACT The folded ear phenotype of Scottish Fold cats is associated with an autosomal dominant TRPV4 variant (c.1024G>T) linked to osteochondrodysplasia. Although genetic testing has been implemented to guide breeding, empirical evidence of its impact on allele frequency remains limited, and crossbreed investigations are lacking.
Ukawa H, Akashi A, Hayashi H, Hiyoshi-Kanemoto S, Onishi H, Ataka K, Matsumoto Y.   +6 more
europepmc   +2 more sources

Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature. [PDF]

Clin Case Rep
ABSTRACT 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, Najmadden ZB, AKhailany R, Rashid MJ, Hamakarim K.   +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 Med
A 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, Miranda V, Sbrocchi AM, Campeau PM, Campillo S, Lahiry P.   +5 more
europepmc   +2 more sources

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders. [PDF]

Acta Paediatr
ABSTRACT 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, He Q, Yuan J, Xu X, Huang K, Dong G, Fu J, Wu D, Wu W.   +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

Genetic Disorders of Bone or Osteodystrophies of Jaws—A Review

Global Medical Genetics, 2021
Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins.
Sirisha Vammi, Jaya Lakshmi Bukyya, Anulekha Avinash CK, M. L. Avinash Tejasvi, Archana Pokala, Chanchala HP, Priyanka Talwade, Praveen Kumar Neela, T. K. Shyamilee, Mary Oshin, Veenila Pantala   +10 more
doaj   +1 more source

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

Journal of Pediatrics Review, 2015
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease.
Kobra Shiasi Arani
doaj   +3 more sources

When parathyroid adenoma meets osteopathia striata, rarest amalgam of bony dysplasia with brown tumors: a case report

The Egyptian Journal of Radiology and Nuclear Medicine, 2023
Background Osteopathia is a benign entity characterized by linear densities along the diaphysis and metaphysis of the longitudinal axes of the long bone.
Moinuddin Sultan, Rituja Chauhan, Abhijeet Shukla, Padma Badhe   +3 more
doaj   +1 more source