多关节融合性骨发育异常
Multisynostotic osteodysgenesis.
作者信息
Herva R, Seppänen U
出版信息
Pediatr Radiol. 1985;15(1):63-4. doi: 10.1007/BF02387858.
PMID:3969299
Abstract
A sporadic case of multisynostotic osteodysgenesis is reported in a 15-day-old female infant with urogenital abnormalities. The main radiological findings were craniosynostosis, radiohumeral synostosis, femoral bowing and fractures. The typical combination of clinical and radiologic findings allow the ready recognition of this syndrome. Seven earlier cases have been reported, five sporadic and one familial; in two sisters.
摘要
报告了一例散发的多关节骨性发育异常病例，患儿为一名15日龄女性婴儿，伴有泌尿生殖系统异常。主要影像学表现为颅骨缝早闭、桡肱关节融合、股骨弯曲和骨折。临床和影像学表现的典型组合便于对该综合征进行诊断。此前已报告过7例，其中5例为散发，1例为家族性（两姐妹患病）。
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