Co-occurring anomalies in congenital oral clefts

被引:2
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 68 条
  • [11] Descriptive epidemiology of oral clefts in a multiethnic population, Hawaii, 1986-2000
    Forrester, MB
    Merz, RD
    [J]. CLEFT PALATE-CRANIOFACIAL JOURNAL, 2004, 41 (06) : 622 - 628
  • [12] FRASER FC, 1970, AM J HUM GENET, V22, P336
  • [13] Orofacial Clefts in the National Birth Defects Prevention Study, 1997-2004
    Genisca, Alicia E.
    Frias, Jaime L.
    Broussard, Cheryl S.
    Honein, Margaret A.
    Lammer, Edward J.
    Moore, Cynthia A.
    Shaw, Gary M.
    Murray, Jeffrey C.
    Yang, Wei
    Rasmussen, Sonja A.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (06) : 1149 - 1158
  • [14] Brazil's Craniofacial Project: Different approaches on orofacial clefts and 22q11.2 deletion syndrome
    Gil-da-Silva-Lopes, Vera Lucia
    Tacla, Milena Atique
    Sgardioli, Ilaria Cristina
    Vieira, Tarsis Paiva
    Monlleo, Isabella Lopes
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2020, 184 (04) : 912 - 927
  • [15] Hagberg C, 1998, CLEFT PALATE-CRAN J, V35, P40, DOI 10.1597/1545-1569(1998)035<0040:IOCLAP>2.3.CO
  • [16] 2
  • [17] Prevalence of nonsyndromic oral clefts in Texas: 1995-1999
    Hashmi, SS
    Waller, DK
    Langlois, P
    Canfield, M
    Hecht, JT
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 134A (04) : 368 - 372
  • [18] Elements of Morphology: General Terms for Congenital Anomalies
    Hennekam, Raoul C.
    Biesecker, Leslie G.
    Allanson, Judith E.
    Hall, Judith G.
    Opitz, John M.
    Temple, I. Karen
    Carey, John C.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (11) : 2726 - 2733
  • [19] ICBDSR, 2005, ICBDSR INT CLEAR BIR
  • [20] International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), 2008, ANN REP 2008 WITH DA