Displasia diastrófica : Caracterización clínica, radiológica, citogenética y molecular de una paciente.
Diastrophic Dysplasia : Clinical, Radiological, Cytogenetic and Molecular Characterization of a Patient
| dc.creator | Ramírez Castro, José Luis | |
| dc.creator | Cock Rada, Alicia María | |
| dc.creator | Mora Henao, Beatriz Eugenia | |
| dc.creator | Ramírez Gaviria, Gloria Cecilia | |
| dc.creator | Vásquez Palacio, Gonzálo de Jesús | |
| dc.creator | Prada Quiroz, Ana Elvira | |
| dc.date | 2021-02-18T20:53:50Z | |
| dc.date | 2021-02-18T20:53:50Z | |
| dc.date | 2005 | |
| dc.date.accessioned | 2023-08-28T20:05:00Z | |
| dc.date.available | 2023-08-28T20:05:00Z | |
| dc.identifier | 0121-0793 | |
| dc.identifier | http://hdl.handle.net/10495/18525 | |
| dc.identifier | 2011-7965 | |
| dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/8473626 | |
| dc.description | RESUMEN: 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. Se caracteriza por marcada disminución de la talla, normocefalia, micromelia, cifoescoliosis, paladar hendido, quistes del pabellón auricular, pie equino varo, contracturas articulares y pulgares abducidos. Durante el período neonatal la mortalidad es alta (25%), generalmente causada por obstrucción de la vía aérea. Si los pacientes sobreviven a dicho período, el pronóstico es bueno. El desarrollo mental y sexual es normal. En 1991 Hastbacka et al. identificaron el locus de la DTD en la región 5q31-q34. En 1996 el Treacher Collins Syndrome Collaborative Group ubicó el gen DTDST en la región 5q32-q33.1. Este gen codifica una proteína transportadora de sulfato, cuya alteración conduce a la formación de proteoglicanos poco sulfatados en la matriz cartilaginosa. Presentamos una paciente que reúne las características fenotípicas y radiológicas de esta entidad. En el estudio molecular (Hospital Necker, París) se identificaron dos mutaciones en el gen DTDST; una mutación nueva y la otra ya descrita en la literatura. | |
| dc.description | ABSTRACT: Diastrophic Dysplasia is an osteochondrodysplasia that is inherited in an autosomal recessive pattern. It was first described by Lamy and Maroteaux in 1960. This disorder is characterized by short stature, normal head size, micromelia, kyphoscoliosis, cleft palate, cystic masses in auricles, talipes equinovarus, joint contractures and abduction of thumbs (“hitchhiker thumbs”). During the neonatal period mortality is high (25%), generally due to respiratory obstruction. For those who survive, prognosis is usually good. Intelligence and sexual development are normal. In 1991 Hästbacka et al. identified the DTD locus in the 5q31-q34 region. In 1996 the Treacher Collins Syndrome Collaborative Group showed that the gene is located on 5q32-q33.1. The DTDST gene encodes a sulphate transporter, whose alteration results in the production of undersulphated proteoglycans in the cartilage matrix. We present a female patient who shows the phenotypic and radiologic characteristics of this disorder. Molecular studies (Necker Hospital, Paris) identified two mutations in the DTDST gene: one previously reported in the literature and a novel mutation. | |
| dc.format | 9 | |
| dc.format | application/pdf | |
| dc.format | application/pdf | |
| dc.language | spa | |
| dc.publisher | Universidad de Antioquia, Facultad de Medicina | |
| dc.publisher | Genética Médica | |
| dc.publisher | Medellín, Colombia | |
| dc.relation | Iatreia | |
| dc.rights | Atribución-NoComercial-CompartirIgual 2.5 Colombia (CC BY-NC-SA 2.5 CO) | |
| dc.rights | info:eu-repo/semantics/openAccess | |
| dc.rights | http://creativecommons.org/licenses/by-nc-sa/2.5/co/ | |
| dc.rights | http://purl.org/coar/access_right/c_abf2 | |
| dc.rights | https://creativecommons.org/licenses/by-nc-sa/4.0/ | |
| dc.subject | Enanismo | |
| dc.subject | Dwarfism | |
| dc.subject | Mutación | |
| dc.subject | Mutation | |
| dc.subject | Osteocondrodisplasia | |
| dc.title | Displasia diastrófica : Caracterización clínica, radiológica, citogenética y molecular de una paciente. | |
| dc.title | Diastrophic Dysplasia : Clinical, Radiological, Cytogenetic and Molecular Characterization of a Patient | |
| dc.type | info:eu-repo/semantics/article | |
| dc.type | info:eu-repo/semantics/publishedVersion | |
| dc.type | http://purl.org/coar/resource_type/c_6501 | |
| dc.type | https://purl.org/redcol/resource_type/ARTCASO | |
| dc.type | Artículo de revista |