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
  • [1] ABYHOLM FE, 1978, SCAND J PLAST RECONS, V12, P35
  • [2] Auslander, 2021, CLEFT PALATE-CRAN J, V58, P1
  • [3] Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980-2012
    Bedard, Tanya
    Lowry, R. Brian
    Sibbald, Barbara
    Crawford, Susan
    Kiefer, Gerhard N.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (01) : 19 - 28
  • [4] Epidemiology of cleft palate in Europe: Implications for genetic research
    Calzolari, E
    Bianchi, F
    Rubini, M
    Ritvanen, A
    Neville, AJ
    [J]. CLEFT PALATE-CRANIOFACIAL JOURNAL, 2004, 41 (03) : 244 - 249
  • [5] OMPHALOCELE AND GASTROSCHISIS IN EUROPE - A SURVEY OF 3-MILLION BIRTHS 1980-1990
    CALZOLARI, E
    BIANCHI, F
    DOLK, H
    MILAN, M
    LECHAT, M
    LEURQUIN, P
    GOYENS, S
    ASTOLFI, G
    VOLPATO, S
    AYME, S
    CALABRO, A
    CLEMENTI, M
    TENCONI, R
    CORNEL, M
    CUSCHIERI, A
    GARCIAMINAUR, S
    GARNE, E
    GILLEROT, Y
    GOUJARD, J
    HANSENKOENIG, D
    ROULLEAUX, M
    HOWARD, PJ
    JOHNSON, Z
    LILLIS, DF
    NEVIN, NC
    NELEN, V
    PEXIEDER, T
    PIERINI, A
    STOLL, C
    STONE, DH
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 58 (02): : 187 - 194
  • [6] Associated anomalies in multi-malformed infants with cleft lip and palate: An epidemiologic study of nearly 6 million births in 23 EUROCAT registries
    Calzolari, Elisa
    Pierini, Anna
    Astolfi, Gianni
    Bianchi, Fabrizio
    Neville, Amanda J.
    Rivieri, Francesca
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (06) : 528 - 537
  • [7] Orofacial cleft malformations: Associations with maternal and infant characteristics in Washington State
    DeRoo, LA
    Gaudino, JA
    Edmonds, LD
    [J]. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2003, 67 (09) : 637 - 642
  • [8] Cleft lip and palate: understanding genetic and environmental influences
    Dixon, Michael J.
    Marazita, Mary L.
    Beaty, Terri H.
    Murray, Jeffrey C.
    [J]. NATURE REVIEWS GENETICS, 2011, 12 (03) : 167 - 178
  • [9] Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)
    Doray, B.
    Badila-Timbolschi, D.
    Schaefer, E.
    Fattori, D.
    Monga, B.
    Dott, B.
    Favre, R.
    Kohler, M.
    Nisand, I.
    Viville, B.
    Kauffmann, I.
    Bruant-Rodier, C.
    Grollemund, B.
    Rinkenbach, R.
    Astruc, D.
    Gasser, B.
    Lindner, V.
    Marcellin, L.
    Flori, E.
    Girard-Lemaire, F.
    Dollfus, H.
    [J]. ARCHIVES DE PEDIATRIE, 2012, 19 (10): : 1021 - 1029
  • [10] Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001
    Forrester, Mathias B.
    Merz, Ruth D.
    [J]. CLEFT PALATE-CRANIOFACIAL JOURNAL, 2006, 43 (03) : 356 - 362