Results 31 to 40 of about 1,610 (176)

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

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

The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care

, 1985
An attempt has been made to estimate the number of living people with skeletal dysplasias (osteochondrodysplasias) in Scotland, England and Wales, ascertained through five orthopaedic centres in different parts of Britain.
R Wynne-Davies, J Gormley
core   +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

Pseudoachondroplasia and multiple epiphyseal dysplasia: Mutation review, molecular interactions, and genotype to phenotype correlations

, 2002
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) constitute a bone dysplasia family, which is both genetically and phenotypically heterogeneous. The disease spectrum ranges from mild MED, which manifests with pain and stiffness in the
Briggs, Michael D., Chapman, Kathryn L.
core   +1 more source

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

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

Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

, 2016
International audienceOtopalatodigital spectrum disorders (OPDSD) constitute a group of dominant X-linked osteochondrodysplasias including four syndromes: otopalatodigital syndromes type 1 and type 2 (OPD1 and OPD2), frontometaphyseal dysplasia, and ...
Hubert, Christophe, Julie Bouron, Marie-Laure Vuillaume, Houcinat, Nada,, Albert David, Julie Deforges, Baumann, Clarisse,, Hubert Journel, Megarbane, Andre, Genevieve, David,, Moutton, Sébastien, Caroline Abadie, Hubert, Christophe,, Megarbane, Andre,, Vuillaume, Marie-Laure, Houcinat, Nada, Patricia Fergelot, Elodie Guerineau, Stattin, Eva-Lena,, Geneviève, David, Sébastien Moutton, Marie-Pierre Cordier, Le Merrer, Martine, Guilhem Solé, Laurence Faivre, Sylvie Devès, Francannet, Christine,, Naudion, Sophie,, Solé, Guilhem, Lacombe, Didier, Giuliano, Fabienne, Danielle Leclair, Fergelot, Patricia,, Sarda, Pierre,, Goizet, Cyril, Deforges, Julie,, Delrue, Marie-Ange,, Leclair, Danielle,, Rooryck, Caroline, Giuliano, Fabienne,, Coupry, Isabelle, Delrue, Marie-Ange, Abadie, Caroline,, Chassaing, Nicolas, Nada Houcinat, Cordier, Marie-Pierre, Sole, Guilhem,, Fabienne Giuliano, Vuillaume, Marie-Laure,, Sophie Naudion, Moutton, Sebastien,, Bouron, Julie,, Arveiler, Benoit, Cordier, Marie-Pierre,, Vigneron, Jacqueline, Arveiler, Benoit,, Naudion, Sophie, Leclair, Danielle, Stattin, Eva-Lena, Benoit Arveiler, Isabelle Coupry, Marie-Ange Delrue, Journel, Hubert,, Sarrazin, Elisabeth, Pierre Sarda, Chassaing, Nicolas,, Vigneron, Jacqueline,, David, Albert, Cyril Goizet, Martine Le Merrer, Goizet, Cyril,, Clarisse Baumann, David Geneviève, Faivre, Laurence,, Christophe Hubert, Guerineau, Elodie, Rooryck, Caroline,, Eva-Lena Stattin, Lacombe, Didier,, André Megarbane, Fergelot, Patricia, Journel, Hubert, Sarda, Pierre, Le Merrer, Martine,, Deforges, Julie, Jacqueline Vigneron, Guerineau, Elodie,, Caroline Rooryck, Christine Francannet, Abadie, Caroline, Coupry, Isabelle,, Bouron, Julie, Sarrazin, Elisabeth,, Elisabeth Sarrazin, Nicolas Chassaing, Deves, Sylvie,, Francannet, Christine, Devès, Sylvie, Faivre, Laurence, Baumann, Clarisse, David, Albert,, Didier Lacombe   +101 more
core   +1 more source