Butler M G, Fogo A B, Fuchs D A, Collins F S, Dev V G, Phillips J A
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232.
Am J Med Genet. 1988 Jan;29(1):149-54. doi: 10.1002/ajmg.1320290119.
We report on 2 patients (3 1/2 year-old-male and 6-year-old female) with the ring 15 chromosome syndrome and speech delays and review 25 cases from the literature. The main characteristics of this syndrome include growth retardation (100%), variable mental retardation (95%), microcephaly (88%), hypertelorism (46%), and triangular facies (42%). Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism (30%), and cardiac abnormalities (30%). The average age at diagnosis was 8.1 years. The average maternal and paternal age at the time of birth was 28 and 31 years, respectively.
我们报告了2例患有15号环状染色体综合征且有语言发育迟缓的患者（一名3岁半男性和一名6岁女性），并回顾了文献中的25个病例。该综合征的主要特征包括生长发育迟缓（100%）、不同程度的智力发育迟缓（95%）、小头畸形（88%）、眼距过宽（46%）和三角形面容（42%）。其他常见表现包括骨龄延迟（75%）、短指畸形（44%）、语言发育迟缓（39%）、额部突出（36%）、耳部异常（30%）、牛奶咖啡斑（30%）、隐睾症（30%）和心脏异常（30%）。诊断时的平均年龄为8.1岁。出生时母亲和父亲的平均年龄分别为28岁和31岁。
