Results 21 to 30 of about 1,394 (123)
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 +4 more
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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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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
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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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Spondyloenchondrodysplasia: a rare cause of short stature
The Turkish Journal of Pediatrics, 2011 Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature.
Gül Yeşiltepe-Mutlu +4 more
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Displasia espondilometafisaria tipo Kozlowski
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016 La displasia espondilometafisaria Kozlowski es un tipo de displasia ósea, que está comprendida dentro de un grupo de desórdenes que afecta fundamentalmente la metáfisis de huesos tubulares, con preferencia por la columna vertebral. Está caracterizada por
Elayne Esther Santana Hernández +1 more
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Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Iranian Journal of Medical Sciences, 2016 Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction.
Efat Khorasani, Rahim Vakili
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Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I
Acta Médica del Centro, 2015 Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It
Ana Esther Algora Hernández +3 more
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Osteochondrodysplasia: A Heritable Disorder
, 2019 {"references": ["1. Krakow D1, Alanay Y, Rimoin LP, Lin V, Wilcox WR,", "Lachman RS, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 1;146A(15):1917-24. 2. Krakow D, Lachman RS, Rimoin DL.
Saurabh Mishra,, GS Rai
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Osteochondrodysplasia in three Scottish Fold cats
Journal of Veterinary Science, 2007 This report explains typical radiographic features of Scottish Fold osteochondrodysplasia. Three Scottish Fold cats suffering from lameness were referred to the Veterinary Medical Teaching Hospital, Seoul National University, Korea. Based on the breed predisposition, history, clinical signs, physical examination, and radiographic findings, Scottish ...
Chang, Jinhwa +8 more
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