Results 21 to 30 of about 1,602 (170)

Inflammatory arthritis in children with osteochondrodysplasias [PDF]

Annals of the Rheumatic Diseases, 2000
Osteochondrodysplasias are a heterogeneous group of genetic skeletal dysplasias. Patients with these diseases commonly develop an early degenerative arthritis or osteoarthritis. Occasional observations of inflammatory arthritis have been made in this population but such observations are based on clinical grounds alone without confirmatory imaging ...
R, Scuccimarri, E M, Azouz, K N, Duffy, F, Fassier, C M, Duffy   +4 more
openaire   +2 more sources

Rare case of nephrotic syndrome: Schimke syndrome

Brazilian Journal of Nephrology
Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia.
Anna Kelly Krislane de Vasconcelos Pedrosa, Luiz Fernando Oliveira Torres, Ana Corina Brainer Amorim da Silva, Adrianna Barros Leal Dantas, Káthia Liliane da Cunha Ribeiro Zuntini, Lia Cordeiro Bastos Aguiar   +5 more
doaj   +1 more source

Síndrome de Grebe. Reporte de un caso. [Grebe syndrome. Case report.]

Revista de la Asociación Argentina de Ortopedia y Traumatología, 2018
La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y ...
Jessica Andrea Suárez Zarrate, Ricardo Arias Arguello, Sebastián Rodríguez Serna   +2 more
doaj   +1 more source

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

Animal Genetics, Volume 57, Issue 3, June 2026.
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.
Yuki Matsumoto, Ryuga Ishii, Hisashi Ukawa, Saaya Hiyoshi‐Kanemoto, Hinako Hayashi, Haruka Onishi, Kai Ataka, Ryo Horie   +7 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

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

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

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

Unilateral buphthalmos in a patient with short stature: a rare case of dual recessive disorders [PDF]

Revista Brasileira de Oftalmologia
Bupthalmos is characterized by congenital enlargement of the eyeball due to uncontrolled glaucoma in early childhood, which is mostly caused by primary congenital glaucoma.
Juan Clinton Llerena Júnior, Maria Eduarda Gomes, Tatiana Sa Pacheco Carneiro Magalhaes, Natana Chaves Rabelo, Sayonara Maria de Carvalho Gonzalez   +4 more
doaj   +2 more sources

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