Ramos F J, Kaplan B S, Bellah R D, Zackai E H, Kaplan P
Sección de Genética, Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Spain.
Am J Med Genet. 1998 Aug 6;78(5):474-81. doi: 10.1002/(sici)1096-8628(19980806)78:5<474::aid-ajmg14>3.0.co;2-c.
The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined the term "serpentine fibula-polycystic kidney syndrome" (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. He postulated that it was a new entity different from the Melnick-Needles syndrome. Since his report, five similar cases have been published. Similarities between both HCS and SFPKS were noticed first by us and then by other authors. In this report we show that many clinical and radiological characteristics are shared by the HCS and the SFPKS and hypothesize that they represent a single entity with a variable degree of expression.
哈伊杜－切尼综合征（HCS）是一种罕见的常染色体显性疾病。其特征包括面容粗糙、颈部短、多毛症、关节松弛以及智力正常。骨发育异常包括肢端骨质溶解、颅骨扁长和脊椎异常。1988年，埃克斯纳[1988年：《欧洲儿科学杂志》147卷：544 - 546页]在报告一名身材矮小、面容异常、多囊肾且腓骨细长弯曲的女孩时，创造了“蛇形腓骨－多囊肾综合征”（SFPKS）这一术语。他推测这是一种不同于梅尔克－尼德尔斯综合征的新疾病。自他的报告发表以来，又有5例类似病例被报道。我们和其他作者首先注意到了HCS和SFPKS之间的相似之处。在本报告中，我们表明HCS和SFPKS具有许多共同的临床和放射学特征，并推测它们代表了一个具有不同表达程度的单一疾病实体。
