Spondylo-epiphyseal dysplasia tarda with progressive arthropathy: description of a patient whose mother showed minimal features of the disease
Rasore-Quartino, A.; Camera, A.; Camera, G.
Pathologica 85(1096): 225-231
1993
ISSN/ISBN: 0031-2983 PMID: 8361786 Document Number: 417262
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.