Percin E F, Percin S, Koptagel E, Demirel H
Cumhuriyet University, Faculty of Medicine, Department of Medical Biology and Genetics, Sivas, Turkey.
Genet Couns. 2003;14(4):387-93.
Pyle type metaphyseal dysplasia is a rare autosomal recessive disease that is primarily affect metaphyses. Here we present a case with Pyle type metaphyseal dysplasia. The characteristic features of the case were metapyhseal broadening with undertubulation and Erlenmeyer flask sign at distal femoral and proximal tibial metaphyses. There were also platyspondyly with biconcave lens appearance of the vertebral bodies, congenital hip dislocation and normal cranium. Bone histopathology showed decreased number of osteoclasts. To the best of our knowledge, this is the first reported case of Pyle type metaphyseal dysplasia from Turkey.
派尔型干骺端发育不良是一种罕见的常染色体隐性疾病，主要影响干骺端。在此，我们报告一例派尔型干骺端发育不良病例。该病例的特征性表现为干骺端增宽伴管状结构发育不全，以及股骨远端和胫骨近端干骺端的烧瓶样畸形。此外，还有椎体呈双凹透镜样外观的扁平椎、先天性髋关节脱位以及正常的颅骨。骨组织病理学显示破骨细胞数量减少。据我们所知，这是土耳其首次报道的派尔型干骺端发育不良病例。
