[Spondyloepiphyseal dysplasia tarda with progressive arthropathy: 2 siblings affected]. / Displasia espóndilo epifisiaria tarda con artropatía progresiva: 2 hermanos afectados.

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.

Trisomy 9 mosaicism in a girl with multiple malformations.

A one-year-old girl with a mosaicism for an extra chromosome 9 is reported. Clinical findings included severe growth and mental retardation, frequent respiratory infections, peculiar face, skeletal and craniofacial abnormalities, seizures, spasticity, cardiopulmonary, gastrointestinal and genitourinary alterations. These findings were compared to those of the 10 other previously reported cases of trisomy 9 mosaicism. This helps to define the most constant phenotypical characteristics and most frequent major malformations which occur in trisomy 9 mosaicism. It is noteworthy that the reported percentage of trisomic cells was different in lymphocytes and in fibroblasts in each case.