Results 51 to 60 of about 1,547 (171)

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

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

Genetic-Clinical study of skeletal dysplasias, with a focus on osteochondrodysplasias with the involvement of the axial skeleton, associated with epiphyseal and/or metaphyseal findings

, 2018
INTRODUÇÃO: As osteocondrodisplasias constituem um grupo heterogêneo de doenças que comprometem a formação, crescimento e desenvolvimento do sistema esquelético. O diagnóstico definitivo, principalmente nas formas com acometimento de coluna, epífise e/ou
Baratela, Wagner Antonio da Rosa
core   +1 more source

Embryonic cranial cartilage defects in the Fgfr3Y367C/+ mouse model of achondroplasia

The Anatomical Record, Volume 308, Issue 7, Page 1893-1911, July 2025.
Abstract Achondroplasia, the most common chondrodysplasia in humans, is caused by one of two gain of function mutations localized in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) leading to constitutive activation of FGFR3 and subsequent growth plate cartilage and bone defects.
Susan M. Motch Perrine, Nishchal Sapkota, Kazuhiko Kawasaki, Yejia Zhang, Danny Z. Chen, Mizuho Kawasaki, Emily L. Durham, Yann Heuzé, Laurence Legeai‐Mallet, Joan T. Richtsmeier   +9 more
wiley   +1 more source

Síndrome otopalatodigital tipo II, aproximación prenatal y diagnóstico clínico de un caso complejo de displasia ósea

Revista Chilena de Obstetricia y Ginecología, 2012
El síndrome otopalatodigital tipo 2 (OPD2), es una rara entidad con herencia recesiva ligada al cromosoma X, letal, caracterizada por facies anormales con hipoplasia centrofacial, hipertelorismo ocular, paladar hendido, talla baja, huesos largos curvos ...
Wilmar Saldarriaga, Albaro José Nieto Calvache, Juan Carlos Quintero, Harry Pachajoa, Carolina Isaza   +4 more
doaj  

Surgical treatment of hand deformities in multiple enchondromatosis: a case report

Acta Orthopaedica et Traumatologica Turcica, 2021
Multiple enchondromatosis (Ollier’s disease) is a rare disease characterized by widespread enchondromas. In general, the short tubular bones of the hand are involved, with progressive lesions resulting in cosmetic problems and functional deformities ...
Bulent Erol, Cihangir Tetik, Evrim Sirin, Baris Kocaoglu, Murat Bezer   +4 more
doaj  

Incremental yield of prenatal exome sequencing in fetuses with skeletal system abnormalities: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 604-614, April 2025.
Our study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Yan Wang, Yuan Lv, Jia Yao, Hao Ding, Gang Li, Jianmin Li, Lizhu Chen   +6 more
wiley   +1 more source

Diastrophic dysplasia: prenatal diagnosis and review of the literature

São Paulo Medical Journal
CONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório, Rafael Frederico Bruns, Luciana Fernandes Gründtner, Salmo Raskin, Lilian Pereira Ferrari, Edward Araujo Júnior, Luciano Marcondes Machado Nardozza   +6 more
doaj   +1 more source

Optical Genome Mapping (OGM) Identifies Multiple Structural Variants in a Case With Atypical Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part A, Volume 197, Issue 3, March 2025.
ABSTRACT Here we describe a neonate exhibiting hypotonia, macrocephaly, renal cysts, and respiratory failure requiring tracheostomy and ventilator support. Genetic analysis via rapid genome sequencing (rGS) identified a loss on chromosome 4 encompassing polycystin‐2 (PKD2) and a loss on chromosome 22 encompassing SH3 and Multiple Ankyrin Repeat Domains
Erica L. Macke, Anthony R. Miller, Caitlyn M. Colwell, Maria Hernandez Gonzalez, Jesse Hunter, Lakshmi Prakruthi Rao Venkata, Lauren Walker, Gregory Wheeler, Richard K. Wilson, Elaine R. Mardis, Katherine E. Miller, Mariam T. Mathew, Bimal P. Chaudhari, Yassmine Akkari   +13 more
wiley   +1 more source

Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia

Revista de la Facultad de Medicina, 2013
Background. Diastrophic dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter. This sindrome is a micromelic dysplasia with multiple bone deformities of the hands,
Tatiana Pineda, Antonio Rossi, Luisa Bonafe, Andrea Superti-Furga, Harvy M. Velasco   +4 more
doaj