Co-occurring anomalies in congenital oral clefts

被引:4
作者
Stoll, Claude [1 ]
Alembik, Yves [1 ]
Roth, Marie-Paule [1 ]
机构
[1] Fac Med, Genet Med, Strasbourg, France
关键词
associated anomalies; cleft lip; cleft lip and palate; cleft palate; congenital anomalies; oral clefts; BIRTH-DEFECTS PREVENTION; OROFACIAL CLEFTS; PRENATAL-DIAGNOSIS; INFANT CHARACTERISTICS; FACIAL CLEFTS; LIP; MALFORMATIONS; PALATE; POPULATION; PREVALENCE;
D O I
10.1002/ajmg.a.62689
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Oral clefts (OCs) are frequently co-occurring with other non-OC congenital anomalies. The types and the prevalence of anomalies co-occurring with OCs vary in the reported studies. The aims of this report were to study the types and the prevalence of the anomalies co-occurring with OCs in a well-defined population. The types and the prevalence of anomalies co-occurring in cases with OCs were ascertained in all terminations of pregnancy, stillbirths, and live births in 387,067 births occurring consecutively during the period 1979-2007 in the area covered by our registry of congenital anomalies which is population based, 789 cases of OCs were registered during the study period with a prevalence of 20.4 per 10,000 births, 39.5% of the cases had associated non-OC anomalies. Associated anomalies were more common in cases with cleft palate (52.4%) than in cases with cleft lip and palate (37.3%) and in cases with cleft lip only (16.8%). Chromosomal abnormalities were present in 94 (11.9%) cases including 27 trisomies 13, 15 trisomies 18, 12 22 q11.2 deletion, and 40 other chromosomal abnormalities. Nonchromosomal recognizable conditions were diagnosed in 38 cases (4.8%) including syndromes, associations, spectrums and sequences. Multiple congenital anomalies (MCAs) were present in 180 cases (22.8%). The most frequent MCA were in the musculoskeletal system (16.7%), the central nervous system (15.0%), the urogenital system (13.7%), the cardiovascular system (8.6%), and the digestive system (6.6%). The high prevalence of associated anomalies justifies a thorough screening for other congenital anomalies in cases with OCs.
引用
收藏
页码:1700 / 1715
页数:16
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