Results 41 to 50 of about 1,854 (192)

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

The genetic aspect and morphological appearance of achondrogenesis [PDF]

, 2017
Achondrogenesis (ACG) is a number of disorders that are the most severe form of congenital chondrodysplasia characterized with bones and cartilage malformation.
Edy Parwanto, Mauritius Lambertus
core   +2 more sources

First Thai Case of Lethal Desbuquois Dysplasia Type I Caused by Novel Compound Heterozygous CANT1 Mutations: Expanding the Molecular Spectrum

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Desbuquois dysplasia Type 1 (DBQD1) is an extremely rare autosomal recessive skeletal dysplasia characterized by severe short stature, joint laxity, distinct facial dysmorphism, and advanced carpotarsal ossification. Here, we report the first Thai patient diagnosed with classical lethal DBQD1.
Supitcha Thamissarakul, Teeraphorn Boonswang, Sethapong Lertsakulbunlue, Siriluk Khumsui, Boonchai Boonyawat, Richa Sharma   +5 more
wiley   +1 more source

Multiple Epiphyseal Dysplasia (MED): A Rare Type of Skeletal Dysplasia [PDF]

, 2012
Multiple epiphyseal dysplasia (MED) is a congenital disorder of skeletal development that primarily affects the ends of long bones, causing progressive joint and bone inflammation and short stature.
Begum, Suraiya, Islam, Mohammad Imnul, Karim, Md Enayet, Rahman, Shahana Akhter, Talukdar, Manik Kumar   +4 more
core   +4 more sources

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

Indian Journal of Radiology and Imaging
Skeletal dysplasias or osteochondrodysplasias comprise a large heterogeneous group of genetic disorders and possess significant overlap on imaging, which adds to the dilemma of the reporting radiologist.
Dheeksha D. S., Stuti Chandola, Aayush Jain, Neerja Gupta, Madhulika Kabra, Manisha Jana   +5 more
doaj   +1 more source

Growth Hormone Axis in Skeletal Dysplasias [PDF]

, 2016
Introduction: Skeletal dysplasias, also termed as osteochondrodysplasias, are a large heterogeneous group of disorders characterized by abnormalities of bone or cartilage growth or texture.
Azzali, Annachiara, de Martino, Maurizio, La Spina, Luisa, Monica, Matteo Della, Scalini, Perla, Stagi, Stefano   +5 more
core   +2 more sources

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