morbus pyle (metaphysare dysplasia)
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Pyle disease (metaphyseal dysplasia).
Pyle disease is an innocuous autosomal recessive disorder in which mild clinical manifestations contrast with the radiological appearances of gross metaphyseal undermodelling. The disorder was first reported by Pyle* in 19311 as "a case of unusual bone development", when he documented a boy aged five years who presented with knock knees. This child and his affected sister were restudied by Bakw...
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Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that primarily affects metaphyses. We report a 12 year old boy with Pyles disease. He had mild facial dysmorphism, genu valgum and wasting of legs. Skeletal radiology revealed the characteristic Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses along with platyspondyly.
متن کاملPyle disease (metaphyseal dysplasia) presenting in two adult sisters
Pyle's disease is an extremely rare skeletal disorder characterized by a benign course and an autosomal recessive genetic pattern of inheritance. Its causal mutation is still unknown. In the medical literature, fewer than 30 cases have been described to date. We report the case of two female siblings, daughters of consanguineous parents, referred to the radiology department complaining of genu ...
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The association of the four following congenital abnormalities-ectodermal dysplasia affecting the hair, teeth and nails; polydactyly; chondro-dysplasia; and congenital morbus cordis-has been observed in two children in whom the clinical picture is so strikingly similar as to justify its description as a separate syndrome. Although many atypical cases of achondroplasia and chondroosteo-dystrophy...
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عنوان ژورنال:
acta medica iranicaجلد ۱۹۷۷، شماره ۰۶، صفحات ۳۷-۴۳
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