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Associated anomalies in cases with congenital clubfoot.
American Journal of Medical Genetics Part A ( IF 1.7 ) Pub Date : 2020-06-26 , DOI: 10.1002/ajmg.a.61721
Claude Stoll 1 , Yves Alembick 1 , Beatrice Dott 1 , Marie-Paule Roth 1
Affiliation  

Congenital clubfoot CTEV is a common congenital anomaly, its etiology is unclear and its pathogenesis is controversial. Cases with CTEV often have other non‐CTEV associated congenital anomalies. The purpose of this study was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with CTEV were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population‐based registry of congenital malformations. Of the 504 cases with CTEV, representing a prevalence of 13.02 per 10,000, 107 (21.2%) had associated anomalies. There were 31 (6.1%) cases with chromosomal abnormalities, and 21 (4.2%) non‐chromosomal recognized dysmorphic conditions including syndromes: 6 arthrogryposis multiplex congenita, 2 22q11.2 microdeletion, and one fetal alcohol syndrome. Fifty‐five (10.9%) of the cases had nonsyndromic multiple congenital anomalies (MCA). Anomalies in the cardiovascular, the central nervous, the urinary, the orofacial, and the musculoskeletal systems were the most common other anomalies in the cases with MCA. The anomalies associated with CTEV could be classified into a recognizable malformation syndrome in 52 of the 107 cases (48.6%) with associated anomalies. This study included special strengths: it is population‐based, each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for anomalies was continued until 2 years of age. In conclusion the overall prevalence of associated anomalies, one of five cases, emphasizes the need for a screening for other anomalies in cases with CTEV.

中文翻译:

先天性马蹄内翻的相关异常。

先天性马蹄内翻足CTEV是一种常见的先天性异常,其病因尚不清楚,其发病机理尚有争议。CTEV病例通常还有其他非CTEV相关的先天性异常。这项研究的目的是评估特定人群中这些相关异常的发生率和类型。在我们以人口为基础的先天性畸形登记所覆盖的区域内,在387,067例连续出生的29年中,所有活产,死产和终止妊娠中均伴有CTEV病例的相关异常。在504例CTEV病例中,每10,000例患病率为13.02,其中107例(21.2%)与异常有关。有31例(6.1%)的染色体异常病例和21例(4.2%)的非染色体畸形病,包括综合征:多发性先天性关节炎6例,微缺失2例,22q11.2例,胎儿酒精综合症1例。55例(10.9%)的病例患有非综合征性多发性先天性异常(MCA)。在MCA病例中,最常见的其他异常是心血管,中枢神经,泌尿,口腔,骨骼和骨骼系统异常。与CTEV相关的异常可分类为107例与相关异常相关的病例中的52例(48.6%)可识别的畸形综合征。这项研究具有特殊优势:以人群为基础,每位受影响的孩子都由遗传学家检查,确定了所有择期终止的学历,并且对异常的监视一直持续到2岁。总之,相关异常的总体患病率(五例之一),
更新日期:2020-08-15
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