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Archives de pédiatrie
Volume 19, n° 10
pages 1021-1029 (octobre 2012)
Doi : 10.1016/j.arcped.2012.07.002
Received : 5 August 2011 ;  accepted : 4 July 2012
Épidémiologie des fentes labio-palatines : expérience du Registre de malformations congénitales d’Alsace entre 1995 et 2006
Epidemiology of orofacial clefts (1995–2006) in France (Congenital Malformations of Alsace Registry)
 

B. Doray a, b, , D. Badila-Timbolschi b, E. Schaefer a, b, D. Fattori a, B. Monga a, B. Dott b, R. Favre c, M. Kohler c, I. Nisand d, B. Viville d, I. Kauffmann e, C. Bruant-Rodier f, B. Grollemund g, R. Rinkenbach g, D. Astruc h, B. Gasser i, V. Lindner i, L. Marcellin j, E. Flori k, F. Girard-Lemaire k, H. Dollfus a, b
a Laboratoire de génétique médicale EA Inserm 3949, faculté de médecine, université de Strasbourg, Strasbourg, France 
b Service de génétique médicale, hôpitaux universitaires de Strasbourg, CHU de Hautepierre, avenue Molière, 67000 Strasbourg cedex, France 
c Service de gynécologie-obstétrique, CMCO-SIHCUS, 67303 Schiltigheim cedex, France 
d Département de gynécologie-obstétrique, hôpitaux universitaires de Strasbourg, 67098 Strasbourg cedex, France 
e Service de chirurgie infantile, hôpitaux universitaires de Strasbourg, 67098 Strasbourg cedex, France 
f Service de chirurgie plastique et maxillofaciale, hôpitaux universitaires de Strasbourg, 67091 Strasbourg cedex, France 
g Pôle de médecine chirurgie buccodentaire, hôpitaux universitaires de Strasbourg, 67000 Strasbourg, France 
h Service de pédiatrie II, hôpitaux universitaires de Strasbourg, 67098 Strasbourg cedex, France 
i Service d’anatomie pathologique, centre hospitalier général de Mulhouse, 68100 Mulhouse cedex, France 
j Service d’anatomie pathologique, hôpitaux universitaires de Strasbourg, 67098 Strasbourg cedex, France 
k Service de cytogénétique, hôpitaux universitaires de Strasbourg, 67098 Strasbourg, France 

Auteur correspondant.
Résumé
Objectifs

Analyse des données cliniques et épidémiologiques des fentes oro-faciales et évaluation du diagnostic prénatal.

Matériels et méthodes

Étude rétrospective à partir des données du Registre de malformations congénitales d’Alsace (département du Bas-Rhin) entre 1995 et 2006.

Résultats

Trois cent vingt et une fentes ont été colligées (prévalence globale de 2,1 pour 1000 naissances), dont 204 fentes labiales et labio-palatines (FL±P) et 117 fentes palatines (FP). Parmi les FL±P, 70 (34 %) étaient associées à d’autres malformations congénitales dans le cadre de syndromes chromosomiques (31 cas) ou de syndromes géniques ou apparentés (12 cas). Les 117 cas de FP se répartissaient en 50 FP totales (43 %) et 67 postérieures (57 %) ; 25 séquences de Pierre Robin ont été recensées (21 %). Les FP étaient associées à d’autres anomalies congénitales dans 68 cas (58 %), dont 12 syndromes chromosomiques et 14 syndromes géniques identifiés. Parmi les 204 cas de FL±P, 106 avaient été diagnostiquées par l’échographie anténatale (52 %). Seul 1 cas de FP avait été diagnostiqué in utero. Parmi l’ensemble des cas, 263 (82 %) étaient nés vivants ; une interruption médicale de grossesse avait été réalisée dans 50 cas (16 %), tous associés à d’autres anomalies et 8 morts fœtales in utero avaient été rapportées (2 %).

Conclusion

La prévalence globale des fentes oro-faciales est élevée (2,1 pour 1000 naissances). L’association fréquente à d’autres anomalies congénitales impose la réalisation d’un bilan malformatif et génétique systématique. Le diagnostic prénatal échographique reste difficile comme en témoigne le taux moyen de détection d’environ 50 %.

The full text of this article is available in PDF format.
Summary
Objectives

To review clinical and epidemiologic data of orofacial clefts and to evaluate the efficacy and the impact of prenatal diagnosis.

Material and methods

A population-based retrospective study was carried out on data from the Congenital Malformations of Alsace Registry (France) between 1995 and 2006.

Results

A total of 321 orofacial clefts were recorded (overall prevalence, 2.1 per 1000), divided into cleft lip (CL) or cleft lip palate (CLP) (204 cases) and cleft palate (117 cases). The cleft lip and cleft lip palate CL±P sex-ratio was 1.87, whereas the CP sex-ratio was 1. CLs were more often unilateral than CLPs (79% versus 59%). CLs were unilateral in 79% of the cases (60/76), bilateral in 20% of the cases (15/76), and median in 1% (1/76); 55% of the unilateral CLs were right and 45% were left. CLPs were unilateral in 59% of the cases (76/128), bilateral in 39% of the cases (50/128), and median in 2% (2/128); 45% of the unilateral CLPs were right and 55% were left. The 117 CPs were divided into 50 clefts of the total palate (43%) and 67 clefts of the posterior palate (57%); 25 cases (21%) of Pierre Robin sequence were collected. Sixty-six percent of CL±P (134/204) were associated with other congenital anomalies, including chromosome abnormality in 31 cases and identified monogenic syndrome or association in 12 cases. The most frequent chromosome abnormalities were 16 cases of trisomy 13 and 7 cases of trisomy 18. No cases of 22q11.2 microdeletion or duplication were detected among CL±P. Monogenic syndromes were identified in 6% (12/204) of CL±P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case). Forty-two percent of CPs (49/117) were associated with other congenital anomalies; chromosome abnormality was identified in 12 cases and monogenic syndrome was diagnosed in 14 cases. The most frequent chromosome abnormality was 22q11 microdeletion (5 cases). Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). Fifty-two percent of CL cases (106/204) were prenatally diagnosed. An increasing tendency was observed between the 1995–2000 and 2001–2006 periods with a detection rate increasing from 47% to 56%. During the whole period, only 1 case of CP was prenatally diagnosed. Eighty-two percent of all cases (263/321) were livebirths; 8 stillbirths were reported (2%); 50 syndromic or associated cases (16%) led to medical abortion (no termination of pregnancy was performed for isolated cleft).

Conclusion

Orofacial clefts are a frequent malformation with a total prevalence of 2.1 per 1000 total births. Sonbographic prenatal diagnosis of orofacial clefts remains difficult with a mean detection rate about 50% for CL±P and is extremely rare for CP. Associated malformations and genetic syndromes are frequent and require a systematic survey. This study also highlights the different pathogenic background of CL±P compared to CP, regarding the sex-ratio and the proportion and type of associated malformations.

The full text of this article is available in PDF format.


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