Results 41 to 50 of about 1,610 (176)
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 +4 more
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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 +9 more
wiley +1 more source
, 2020 Osteochondrodysplasias are a heterogeneous group of disorders with variable growth failure and skeletal impairments affecting the spine and long bone epiphyses and metaphyses.
core +2 more sources
Diastrophic dysplasia: prenatal diagnosis and review of the literature
São Paulo Medical JournalCONTEXT Diastrophic dysplasia is a type of osteochondrodysplasia caused by homozygous mutation in the gene DTDST (diastrophic dysplasia sulfate transporter gene).
Jonathan Celli Honório +6 more
doaj +1 more source
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 +4 more
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Genetic disorders of the skeleton: a developmental approach
, 2003 Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions ...
Kornak, Uwe, Mundlos, Stefan
core +1 more source
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 +6 more
wiley +1 more source
Archives of Pediatric NeurosurgeryIntroduction: Diastrophic dysplasia (DTD) is a rare disorder that affects the development of cartilage and bone. It is an autosomal recessive skeletal dysplasia that results in short stature with limb shortening, contractures of large joints, spinal ...
Emilson Camapum +5 more
doaj +1 more source
PPAR-g Regulatory Networks in Bone Metabolism And Mineralization [PDF]
, 2015 __Abstract__ Bone is a highly dynamic tissue that is permanently remodeled as an intrinsic mechanism to regenerate bone during life, to accomplish longitudinal growth, and to generate new bone during fracture repair.
Bruedigam, Claudia +1 more
core +1 more source
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 +4 more
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