Results 61 to 70 of about 1,628 (156)

Brachydactyly with Novel BMP8A and FGFR1 Variants: A Case Report with Review of Literature

Advanced Genetics, Volume 6, Issue 3, September 2025.
The current study describes a novel type of brachydactyly, characterized by absent phalanges in the toes. Whole genome sequencing identified rare missense variants in the BMP8A and FGFR1 genes, both of which are known to play a role in bone development. Bioinformatic and protein network analysis support their involvement in bone deformities.
Luke Hunter, Muhammad Ilyas
wiley   +1 more source

Displasia diastrófica: Caracterización clínica, radiológica, citogenética y molecular de una paciente Diastrophic dysplasia: clinical, radiological, cytogenetic and molecular characterization of a patient

Iatreia, 2005
La displasia diastrófica (DTD) es un tipo de osteocondrodisplasia congénita con un patrón de herencia autosómico recesivo, descrita inicialmente por Lamy y Maroteaux en 1960.
Ana Elvira Prada Quiroz, Gonzálo Vásquez Palacio, Gloria C. Ramírez Gaviria, Beatriz Eugenia Mora Henao, Alicia María Cock Rada, José Luis Ramírez Castro   +5 more
doaj  

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

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

Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders

Acta Paediatrica, Volume 114, Issue 7, Page 1720-1730, July 2025.
ABSTRACT Aim Type II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
Shumin Zhan, Qin He, Jinna Yuan, Xiaoqin Xu, Ke Huang, Guanping Dong, Junfen Fu, Dingwen Wu, Wei Wu   +8 more
wiley   +1 more source

Camptomelic dysplasia: A case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2007
Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period.
Koš Radmila, Međo Biljana, Grković Slobodanka, Nikolić Dimitrije, Sajić Silvija, Ilić Jelena   +5 more
doaj   +1 more source

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

A human COL2A1 gene with an Arg519Cys mutation causes osteochondrodysplasia in transgenic mice

, 2004
OBJECTIVE: An arginine-to-cysteine substitution at position 519 of the COL2A1 gene causes early generalized osteoarthritis with mild chondrodysplasia in humans. In this study, a human COL2A1 gene with the same mutation was introduced into a murine genome
Li, Shi-Wu,, Helminen, Heikki,, Lammi, Mikko,, Långsjö, Teemu,, Sahlman, Janne,, Prockop, Darwin,, Arita, Machiko,, Puustjärvi, Kaija,, Pitkänen, Marja,   +8 more
core   +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

Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature

Indian Journal of Neurosurgery, 2014
Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified
Jayesh C. Sardhara, Kumar Ashish, Anant Mehotra, Arun K. Srivastava, Kuntal K. Das   +4 more
doaj   +1 more source