Pyle metaphyseal dysplasia.
نویسندگان
چکیده
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.
منابع مشابه
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...
متن کاملComparison between Greulich-Pyle and Golden-Girdany methods for estimating skeletal age of children
متن کامل
The reliability of skeletal age determination by the Greulich and Pyle method in an Iranian sample
متن کامل
Pyle metaphyseal dysplasia in an African child: Case report and review of the literature.
Pyle disease (OMIM 265900), also known as metaphyseal dysplasia, is a rare autosomal recessive disorder with no known gene mutation. We report a case of Pyle disease in a 7-year-old African boy of mixed ancestry who presented with finger and wrist fractures following minor trauma. The radiological findings revealed abnormally broad metaphyses of the tubular bones, known as Erlenmeyer-flask bone...
متن کاملSibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Indian pediatrics
دوره 45 4 شماره
صفحات -
تاریخ انتشار 2008