[Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease].
An 8-year-old male patient with Spondylo-Epiphyseal Tarda with Progressive Arthropathy (SEDT-PA) or Progressive Pseudo-rheumatoid Arthropathy of Childhood is reported. Abnormal gait, fatigability, and joint symptoms began at 3 years. Radiological changes were: generalized osteoporosis, platyspondyly, and enlarged epiphyses. The patient's mother showed reduced muscular massa, joint swelling, moderate osteoporosis, and normal vertebrae. SEDT-PA has an autosomal recessive mode of inheritance. In this case, as the propositus' mother showed minimal signs of the disease, either an X-linked trait or an autosomal dominant mutation with variable expressivity could also be assumed.
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Divisione di pediatria, Ospedali Galliera di Genova, Italia.
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D002648:Child; D005260:Female; D006801:Humans; D007592:Joint Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D009035:Mothers; D010009:Osteochondrodysplasias / Q000150:complications / Q000235:genetics*; D010641:Phenotype
Displasia spondilo-epifisaria tarda con artropatia progressiva: descrizione di un paziente la cui madre presentava segni minimi della malattia.