1980 - 1984年苏格兰西部的面部裂隙：流行病学与基因诊断
Facial clefts in the west of Scotland in the period 1980-1984: epidemiology and genetic diagnoses.
作者信息
FitzPatrick D R, Raine P A, Boorman J G
机构信息
Duncan Guthrie Institute of Medical Genetics, Yorkhill, Glasgow, UK.
出版信息
J Med Genet. 1994 Feb;31(2):126-9. doi: 10.1136/jmg.31.2.126.
Abstract
Two hundred and eighty six cases of cleft lip, cleft palate, or both were identified in a study attempting complete ascertainment of babies with facial clefts born to women resident in the west of Scotland in a five year period beginning 1 January 1980. The total birth prevalence (TBP) of these defects over this period was 1.53 per 1000. The TBP for cleft lip with or without cleft palate (CL[P] was 0.74 per 1000 and for cleft palate (CP) was 0.79 per 1000; 26% of CL[P] and 39.5% of CP cases had one or more major congenital anomaly associated with their facial cleft and in over half of these cases a specific genetic or syndrome diagnosis could be made. In comparison to previous European reports this study shows a high incidence of associated abnormalities and a remarkably low ratio of CL[P]:CP cases.
摘要
在一项旨在全面确定1980年1月1日起五年内居住在苏格兰西部的妇女所生面部裂婴儿的研究中，共识别出286例唇裂、腭裂或两者皆有的病例。在此期间，这些缺陷的总出生患病率（TBP）为每1000例中有1.53例。唇裂伴或不伴腭裂（CL[P]）的TBP为每1000例中有0.74例，腭裂（CP）的TBP为每1000例中有0.79例；26%的CL[P]病例和39.5%的CP病例伴有一种或多种与面部裂相关的主要先天性异常，其中超过一半的病例可做出特定的遗传或综合征诊断。与之前的欧洲报告相比，本研究显示相关异常的发生率较高，且CL[P]:CP病例的比例显著较低。
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