- 期刊
Robinow Syndrome: Report of One Case
Robinow症候群：一病例報告
摘要
我們報告一個二個月大患有Robinow症候群的女嬰，其臨床表現包括身材短小、典型的臉部表現、四肢短小、短指、手指彎曲、兩手拇指複制畸形、陰蒂發育不良及外翻足。染色體檢查結果為一正常女性，胸部及兩側上肢的X光攝影顯示有肋骨異常、第八胸椎異常、椎莖間距縮短，橈、尺骨較短及在兩則肱骨的皮質有增厚及向外擴張的情形。手部及足部的X光檢查顯示掌骨、蹠骨及指跳骨倖免有短小及大小不一的情形。此症無特殊治療方法。 其遺傳模式一般認為是多基因性的，但在我們的病例，其遺傳模式以突變性的或自體隱性遺傳為最可能。
並列摘要
We report a 2-month-old infant with Robinow syndrome. Clinical manifestations included short stature, characteristic facies, mesomelic brachymelia, brachydactyly, camptodaclyly, duplication of thumbs, hypoplasia of clitoris, and deformed pronated foot. A cytogenetic study revealed a normal female karyotype. Chest radiography showed rib anomalies, a vertebral anomaly in T8, narrowing of interpedicutar distances and flaring with slight thickening of the bone cortex in the bilateral humeral bone. Hand and foot radiography showed generalized shortening include unequal size of metacarpal, metatarsal and phalangeal bones. In our case, sporadic or autosomal recessive inheritance was most likely. The literature is reviewed.
延伸閱讀
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