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
相关论文
共 69 条
[51]   ISOLATED ORAL CLEFT MALFORMATIONS - ASSOCIATIONS WITH MATERNAL AND INFANT CHARACTERISTICS IN A CALIFORNIA POPULATION [J].
SHAW, GM ;
CROEN, LA ;
CURRY, CJ .
TERATOLOGY, 1991, 43 (03) :225-228
[52]  
Shprintzen R.J., 1989, WHAT IS CLEFT LIP PA, P57
[53]   ANOMALIES ASSOCIATED WITH CLEFT-LIP, CLEFT-PALATE, OR BOTH [J].
SHPRINTZEN, RJ ;
SIEGELSADEWITZ, VL ;
AMATO, J ;
GOLDBERG, RB .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 20 (04) :585-595
[54]  
Stark R., 1968, CLEFT PALATE MULTIDI
[55]   Thirty Years of Prenatal Cleft Diagnosis: What Have We Learned? [J].
Steinberg, Jordan P. ;
Gosain, Arun K. .
PLASTIC AND RECONSTRUCTIVE SURGERY, 2015, 136 (03) :550-557
[56]   EPIDEMIOLOGIC AND GENETIC-STUDY IN 207 CASES OF ORAL CLEFTS IN ALSACE, NORTH-EASTERN FRANCE [J].
STOLL, C ;
ALEMBIK, Y ;
DOTT, B ;
ROTH, MP .
JOURNAL OF MEDICAL GENETICS, 1991, 28 (05) :325-329
[57]  
Stoll C, 1985, Prog Clin Biol Res, V163B, P157
[58]   EVALUATION OF ROUTINE PRENATAL-DIAGNOSIS BY A REGISTRY OF CONGENITAL-ANOMALIES [J].
STOLL, C ;
DOTT, B ;
ALEMBIK, Y ;
ROTH, MP .
PRENATAL DIAGNOSIS, 1995, 15 (09) :791-800
[59]  
Stoll C, 2000, CLEFT PALATE-CRAN J, V37, P41, DOI 10.1597/1545-1569(2000)037<0041:AMICWO>2.3.CO
[60]  
2