Results 41 to 50 of about 1,547 (171)

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

Animal Genetics, Volume 57, Issue 3, June 2026.
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.
Hisashi Ukawa, Ayako Akashi, Hinako Hayashi, Saaya Hiyoshi‐Kanemoto, Haruka Onishi, Kai Ataka, Yuki Matsumoto   +6 more
wiley   +1 more source

The Voice of Cantú: Lower Voice Pitch Is a New Phenotypic Feature of Cantú Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 5, Page 1062-1068, May 2026.
ABSTRACT Cantú syndrome (CS) is a rare genetic condition caused by pathogenic variants in either ABCC9 or KCNJ8, leading to gain‐of‐function of KATP‐channels. The main clinical features are hypertrichosis and cardiovascular abnormalities. This study investigates the voice characteristics in individuals with CS, an aspect that has received little ...
Lotte Kleinendorst, Melanie N. S. Molegraaf, Dorothy K. Grange, Rico N. P. M. Rinkel, Mieke M. van Haelst   +4 more
wiley   +1 more source

Influencing factors for physiological genu varum in children [PDF]

精准医学杂志
Objective To investigate the influencing factors for physiological genu varum in children. Methods A total of 68 children with physiological genu varum who were diagnosed in Department of Child Healthcare in our hospital from November 2019 to November ...
ZHAO Huijuan, YI Mingji, SHAN Yanchun, WANG Yanxia, YANG Zhaochuan, MA Liang
doaj   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Prenatal Diagnosis of Cartilage-Hair Hypoplasia: A Narrative Review

Acta Médica Portuguesa
Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathogenic variants in the RMRP gene. The
Catarina Portela Carvalho, Inês Alves, Carolina Lemos, Luís Guedes-Martins   +3 more
doaj   +1 more source

Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders

, 2021
Bone dysplasias (osteochondrodysplasias) are a large group of conditions associated with short stature, skeletal disproportion, and radiographic abnormalities of skeletal elements. Nearly all are genetic in origin.
Ingrid Kühnle, Mozzato, Chiara, Ann Nordgren, Superti‐Furga, Andrea, Caterina Cancrini, Kramm, Christof Maria, Gen Nishimura, Bonafè, Luisa, Anna Hammarsjö, Zuccarello, Daniela, Putti, Caterina, Daniela Zuccarello, Finocchi, Andrea, Lorenzo D. Botto, Kühnle, Ingrid, Marie Meeths, Andrea Finocchi, Alanay, Yasemin, Chiara Mozzato, Sheila Unger, Unger, Sheila, Birgit Zirn, Giedre Grigelioniene, Superti-Furga, Andrea, Zirn, Birgit, Melita Irving, Christof Maria Kramm, Caterina Putti, Campos‐Xavier, Belinda, Henter, Jan‐Inge, Henter, Jan Inge, Jan‐Inge Henter, Campos-Xavier, Belinda, Grigelioniene, Giedre, Nordgren, Ann, Yasemin Alanay, Irving, Melita, Sabir, Ataf, Jones, Wendy D., Laura Mazzanti, Emanuela Scarano, Nishimura, Gen, Bergamaschi, Rosalba, Wendy D. Jones, Mazzanti, Laura, Rosalba Bergamaschi, Botto, Lorenzo D., Birgit Borgström, Belinda Campos‐Xavier, Cancrini, Caterina, Scarano, Emanuela, Andrea Superti‐Furga, Meeths, Marie, Ataf Sabir, Luisa Bonafè, Borgström, Birgit, Hammarsjö, Anna   +56 more
core   +1 more source

A Case of Congenital Hypothyroidism in Cats: Diagnostic Challenges and Therapeutic Outcomes

Veterinary Medicine and Science, Volume 12, Issue 3, May 2026.
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.
Morteza Ezati Kakalar, Farkhondeh Fahim Dezhban, Amin Zamani, Sina Sabour Razlighi   +3 more
wiley   +1 more source

Accidental Diagnosis of Type VII Osteogenesis Imperfecta in an Infant Presenting With Pneumonia and Rickets‐Like Rib Fractures: A Case Report

Clinical Case Reports, Volume 14, Issue 4, April 2026.
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
Samaneh Parviz, Dariush Hooshyar
wiley   +1 more source

Diagnóstico pré-natal de displasia camptomélica: relato de caso Prenatal diagnosis of camptomelic dysplasia: a case report

Revista Brasileira de Ginecologia e Obstetrícia, 2008
A displasia camptomélica pertence a um grupo heterogêneo e raro de displasias esqueléticas letais, que se caracterizam pelo desenvolvimento anormal dos ossos e das cartilagens.
Tadeu Coutinho, Conrado Milani Coutinho, Larissa Milani Coutinho   +2 more
doaj   +1 more source

Skeletal Dysplasia During the Bronze Age in Northeast Thailand (3000–2500 BP)

International Journal of Osteoarchaeology, Volume 36, Issue 2, Page 318-324, March/April 2026.
ABSTRACT This study examines a case of skeletal dysplasia in an adult male (B290) from the Bronze Age at the site of Ban Non Wat, Northeast Thailand. Skeletal dysplasia, a group of genetic disorders affecting bone and cartilage growth, presents diagnostic challenges due to overlapping clinical features.
Nuttheera Kaoboriboon, Nancy Tayles, Sarah Agatha Villaluz, Pratiwi Yuwono, Kate Domett, Melandri Vlok   +5 more
wiley   +1 more source