Results 11 to 20 of about 1,628 (156)

Pseudoachondroplasia in a child: The role of anthropometric measurements and skeletal imaging in differential diagnosis

The Egyptian Journal of Radiology and Nuclear Medicine, 2017
Pseudoachondroplasia is a rare osteochondrodysplasia characterized by disproportionate short stature and limb deformity. Diagnostic accuracy is based on a detailed evaluation of the radioclinical features. We report a boy with pseudoachondroplasia.
Radwa Gamal, MSc, Solaf M. Elsayed, MD, Tamer Ahmed EL-Sobky, MD, Heba Salah Elabd, MD   +3 more
doaj   +3 more sources

Smith-McCort variant syndrome: A rare case with associated enamel hypoplasia

Journal of Indian Academy of Oral Medicine and Radiology, 2015
The Smith-McCort syndrome (SMC), which was first described by Smith and McCort in 1958, is a rare form of osteochondrodysplasia, specifically a spondyloepimetaphyseal dysplasia. It is one of the rare syndromes that can present with skeletal dysplasia and
Sandeepa Nuchilakath, Jaishankar Homberhalli Puttabuddi   +1 more
doaj   +2 more sources

Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases

Case Reports in Obstetrics and Gynecology, 2019
Aim. Achondrogenesis type II is a rare, lethal osteochondrodysplasia with considerable phenotypic heterogeneity. We describe our experience in diagnosing prenatal-onset achondrogenesis type II by a multidisciplinary assessment. Methods.
Wenbo Wang, Qichang Wu, Li Sun, Xiaohong Zhong, Yasong Xu, Xiaojian Xie, Zhiying Su   +6 more
doaj   +2 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

Straightened Small Pinnae in TRPV4 c.1024G>T Heterozygous Cats. [PDF]

Anim Genet
ABSTRACT The folded‐ear phenotype of Scottish Fold cats results from a dominant variant of the TRPV4 gene (c.1024G>T). Producing homozygous individuals is discouraged due to severe osteochondrodysplasia and identifying heterozygous carriers is critical for breeding.
Matsumoto Y, Ishii R, Ukawa H, Hiyoshi-Kanemoto S, Hayashi H, Onishi H, Ataka K, Horie R.   +7 more
europepmc   +2 more sources

Genetically Confirmed Schwartz–Jampel Syndrome: An Ultra-Rare Case of Congenital Myotonia with Osteochondrodysplasia from India [PDF]

International Journal of Medical Students
Background: Schwartz–Jampel syndrome is a rare autosomal recessive disorder caused by mutations in the HSPG2 gene, leading to perlecan deficiency. Perlecan is a heparan sulfate proteoglycan critical for cartilage integrity, basement membrane stability ...
Nandita Jali, Suvarna Magar, Tanya Trikha, Varsha Vaidya, Viranchi Vaidya   +4 more
doaj   +4 more sources

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes. [PDF]

Vet Med Sci
Congenital hypothyroidism in a 3‐year‐old Persian cat was diagnosed via low total thyroxine levels unresponsive to TSH stimulation, alongside clinical signs of dwarfism and renal failure. Levothyroxine therapy significantly improved renal function and activity within 1 week.
Kakalar ME, Dezhban FF, Zamani A, Razlighi SS.   +3 more
europepmc   +2 more sources

Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets-Like Rib Fractures: A Case Report. [PDF]

Clin Case Rep
ABSTRACT This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses
Parviz S, Hooshyar D.
europepmc   +2 more sources

Jeune syndrome with renal failure [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2017
Introduction/Objective. Jeune syndrome (JS) is a rare hereditary ciliopathy characterized by asphyxiating thoracic dystrophy, shortened limbs and brachydactyly.
Peco-Antić Amira, Kostić Mirjana, Spasojević Brankica, Miloševski-Lomić Gordana, Paripović Dušan, Kruščić Divna, Cvetković Mirjana   +6 more
doaj   +1 more source

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