Wang L Y, Hsu C H, Shih S L, Lin S P
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 May-Jun;38(3):235-8.
We report a 2-month-old infant with Robinow syndrome. Clinical manifestations included short stature, characteristic facies, mesomelic brachymelia, brachydactyly, camptodactyly, 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 interpedicular 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.
我们报告一例患有鲁宾诺综合征的2个月大婴儿。临床表现包括身材矮小、特征性面容、中肢短肢侏儒症、短指畸形、屈曲指、拇指重复、阴蒂发育不全以及足内翻畸形。细胞遗传学研究显示为正常女性核型。胸部X线检查显示肋骨异常、T8椎体异常、双侧肱骨椎弓根间距变窄以及骨皮质轻度增厚伴扩张。手部和足部X线检查显示全身骨骼缩短，包括掌骨、跖骨和指骨大小不等。在我们的病例中，最可能为散发或常染色体隐性遗传。本文对相关文献进行了综述。
