[Spondyloepiphyseal dysplasia tarda with progressive arthropathy: 2 siblings affected].
We described a Mexican family whose parents were consanguineous. Therefore two children were affected by a progressive arthropathy with deformity in all finger joints, restricted joint mobility and broad major joints. This condition was diagnosed like atypical juvenile rheumatoid arthritis (JRA) because the test for serum rheumatoid factors and antibodies were negative and failed to respond to anti-rheumatoid treatment. However their radiographic studies showed the spine with universal platyspondyly, enlargement epiphyses of the hands, the absence of destructive and the presence of the dysplastic bone changes. These manifestations permit us to do the diagnosis of spondyloepiphyseal dysplasia tarda with progressive arthropathy. In this report we suggest that a complete radiologic study of the patient will allowed to diagnosis this hereditary autosomal recessive entity; likewise it will let us differ of JRA and others polyarticular conditions of childhood.
Díaz-Mares
L
L
Departmento de Investigación en Genética Humana, Instituto Nacional de Pediatría, México, D.F.
González-del Angel
A
A
Gutiérrez-Castrellón
P
P
Takenaga-Mesquida
R
R
Carnevale
A
A
D002648:Child; D002675:Child, Preschool; D006801:Humans; D007592:Joint Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D010375:Pedigree
Displasia espóndilo epifisiaria tarda con artropatía progresiva: 2 hermanos afectados.