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Children with preschool wheezing represent a very heterogeneous population with wide variability regarding their clinical, inflammatory, obstructive, and/or remodeling patterns. We hypothesized that assessing bronchial remodeling would help clinicians to better characterize severe preschool wheezers.The main objective was to identify bronchial remodeling-based latent classes of severe preschool wheezers. Secondary objectives were to compare cross-sectional and longitudinal clinical and biological data between classes, and to assess the safety of bronchoscopy.This double-center prospective study (NCT02806466) included severe preschool wheezers (1-5 years old), requiring fiberoptic bronchoscopy. Bronchial remodeling parameters (i.e., epithelial integrity, reticular basement membrane (RBM) thickness, mucus gland, fibrosis and bronchial smooth muscle (BSM) areas, density of blood vessels, and RBM-BSM distance) were assessed and evaluated by Latent Class Analysis. An independent cohort of severe preschool wheezers (NCT04558671) was used to validate our results.Fiberoptic bronchoscopy procedures were well tolerated. A two-class model was identified: Class BR1 was characterized by increased RBM thickness, normalized BSM area, density of blood vessels, and decreased mucus gland area, fibrosis and RBM-BSM distance compared to Class BR2. No significant differences were found between classes in the year prior to fiberoptic bronchoscopy. By contrast, Class BR1 was associated with a shorter time to first exacerbation and an increased risk of both frequent (3) and severe exacerbations during the year following bronchoscopy in the two cohorts.Assessing bronchial remodeling identified severe preschool wheezers at risk of frequent and severe subsequent exacerbations with a favorable benefit to risk ratio.

INTRODUCTION: Exacerbations in preschool wheezers increase the risk of impaired lung function and asthma persistence at school age. Bronchial remodelling-based latent classes identify severe preschool wheezers at increased risk of frequent exacerbations (>3) but failed to distinguish those without exacerbation from those with low exacerbations rate (1-2 exacerbations) in the year following bronchoscopy. We thus aimed to identify further independent factors associated with no, low or high exacerbation rates. METHODS: In this post-hoc analysis, 80 severe preschool wheezers from the “P’tit Asthme” and “RESPIRE” studies were divided into 3 groups: No-Ex (0 exacerbation in the year following the bronchoscopy, n=20), Low-Ex (1-2 exacerbations, n=27) and High-Ex (≥3 exacerbations, n=33). Associations between variables and groups were assessed using multinomial logistic regressions. RESULTS: Atopic dermatitis, age at the first wheezing episode, Haemophilus and Streptococcus genera in the bronchoalveolar lavage fluid (BALF), bronchial smooth muscle (BSM) area, reticular basement membrane (RBM) thickness and RBM-BSM distance were all significantly different between No-Ex and/or Low-Ex and/or High-Ex. However, only atopic dermatitis, age at first episode of wheezing, Haemophilus genus in the BALF, RBM-BSM distance and BSM area were significantly and independently associated with exacerbation frequency. Among them, the BSM area was the sole parameter independently associated with each group. CONCLUSION: While atopic dermatitis, age at the first episode of wheezing, Haemophilus in BALF, RBM-BSM distance and BSM area appeared to be relevant independent parameters associated with exacerbation susceptibility in severe preschool wheezers, only the increased BSM area discriminated between each of the three-exacerbation frequency-based groups.

Objective This multicentric study aimed to evaluate the quality of life (QOL) in children with Hirschsprung's disease (HD). Methods HD patients aged from 6 to 18 years and followed-up in 2 French pediatric surgery centers were included in this study. QOL was assessed using the HAQL questionnaires according to age (6-11 and 12-18), filled by patients and their parents (proxy reports) and correlated with initial disease characteristics, nutritional status, and functional score of Krickenbeck. Results Sixty-three patients were included. The acquisition of satisfactory voluntary bowel movements was found in only 50% of the 6 to 11 years old and 68% of the teenagers. Seventy percentage of the children and 55% of teenagers had soiling issues. The overall HAQLproxy6--11 score was 528/700; best scores were found for "fecal continence" (94/100), "social functioning" (94/100), and "urinary continence" (92/100) whereas the worst scores were for "general well-being" (64/100) and "diurnal fecal continence" (58/100). The overall HAQLproxy12--16 score was 607/700; best scores were for "urinary continence" (96/100) and "social functioning" (93/100). In a multivariate analysis, soiling was the only factor significantly associated with low QOL (P = 0.03). Conclusions Soiling remains frequent in children operated on for HD and negatively affects their QOL. Assessment and treatment of soiling should be the priority for medical teams in the follow-up of these children.

Gastro-esophageal reflux disease (GERD) is the most frequent long-term morbidity of congenital diaphragmatic hernia (CDH) survivors. Performing a preventive fundoplication during CDH repair remains controversial. This study aimed to: (1) Analyze the variability in practices regarding preventive fundoplication; (2) Identify predictive factors for fundoplication. (3) Evaluate the impact of preventive fundoplication on gastro-intestinal outcomes in children with a CDH patch repair; METHODS: This prospective multi-institutional cohort study (French CDH Registry) included CDH neonates born in France between January 1st, 2010-December 31st, 2018. Patch CDH was defined as need for synthetic patch or muscle flap repair. Main outcome measures included need for curative fundoplication, tube feed supplementation, failure to thrive, and oral aversion.Of 762 CDH neonates included, 81 underwent fundoplication (10.6%), either preventive or curative. Median follow-up was 3.0 years (IQR: 1.0-5.0). (1) Preventive fundoplication is considered in only 31% of centers. The rates of both curative fundoplication (9% vs 3%, p = 0.01) and overall fundoplication (20% vs 3%, p 0.0001) are higher in centers that perform preventive fundoplication compared to those that do not. (2) Predictive factors for preventive fundoplication were: prenatal diagnosis (p = 0.006), intra-thoracic liver (p = 0.005), fetal tracheal occlusion (p = 0.002), CDH-grade C-D (p 0.0001), patch repair (p 0.0001). After CDH repair, 8% (n = 51) required curative fundoplication (median age: 101 days), for which a patch repair was the only independent predictive factors identified upon multivariate analysis. (3) In neonates with patch CDH, preventive fundoplication did not decrease the need for curative fundoplication (15% vs 11%, p = 0.53), and was associated with higher rates of failure to thrive (discharge: 81% vs 51%, p = 0.03; 6-months: 81% vs 45%, p = 0.008), tube feeds (6-months: 50% vs 21%, p = 0.02; 2-years: 65% vs 26%, p = 0.004), and oral aversion (6-months: 67% vs 37%, p = 0.02; 1-year: 71% vs 40%, p = 0.03).Children undergoing a CDH patch repair are at high risk of requiring a curative fundoplication. However, preventive fundoplication during a patch repair does not decrease the need for curative fundoplication and is associated with worse gastro-intestinal outcomes in children.II - Prospective Study.

International audience; Background Ovarian mature teratoma (OMT) is a common ovarian tumor found in the pediatric population. In 10%-20% of cases, OMT occurs as multiple synchronous or metachronous lesions on ipsi- or contralateral ovaries. Ovarian-sparing surgery (OSS) is recommended to preserve fertility, but total oophorectomy (TO) is still performed. Design This study reviews the clinical data of patients with OMT, and analyzes risk factors for second events. A national retrospective review of girls under 18 years of age with OMTs was performed. Data on clinical features, imaging, laboratory studies, surgical reports, second events and their management were retrieved. Results Overall, 350 children were included. Eighteen patients (5%) presented with a synchronous bilateral form at diagnosis. Surgery was performed by laparotomy (85%) and laparoscopy (15%). OSS and TO were performed in 59% and 41% of cases, respectively. Perioperative tumor rupture occurred in 23 cases, independently of the surgical approach. Twenty-nine second events occurred (8.3%) in a median time of 30.5 months from diagnosis (ipsilateral: eight cases including one malignant tumor; contralateral: 18 cases; both ovaries: three cases). A large palpable mass, bilateral forms, at diagnosis and perioperative rupture had a statistical impact on the risk of second event, whereas the type of surgery or approach did not. Conclusion This study is a plea in favor of OSS as the first-choice treatment of OMT when possible. Close follow-up during the first 5 years is mandatory considering the risk of 8.3% of second events, especially in cases with risk factors.

Objective Ovarian mature teratoma (OMT) is a common ovarian tumor found in the pediatric population. In 10% to 20% of cases, OMT occurs as multiple synchronous or metachronous lesions on ipsi- or contralateral ovaries. Ovarian sparing surgery (OSS) is recommended to preserve fertility, but total oophorectomy (TO) is still performed. This study reviews the clinical data of patients with OMT, and analyzes risk factors for second events. Design A retrospective review of all girls under 18 years of age with OMTs was performed. Data on clinical features, imaging, laboratory studies, surgical reports, follow-up second events and their management were retrieved. Results Overall, 350 children were identified. Eighteen patients (5%) presented with a synchronous bilateral form at diagnosis. Surgery was performed by laparotomy (85%) and laparoscopy (15%). OSS and TO were performed in 59% and 41% of cases respectively. Perioperative tumor rupture occurred in 23 cases, independently of the surgical approach. Twenty-nine second events occurred (8.3%) in a median time of 30.5 months from diagnosis (ipsilateral: 8 cases including one malignant tumor, contralateral: 18 cases, both ovaries: 3 cases). A large palpable mass, bilateral forms at diagnosis and perioperative rupture had a statistical impact on the risk of second event, whereas type of surgery or approach did not. Conclusion This study is a plea in favor of OSS as the first choice of treatment of OMT when possible. Close follow-up during the first five years is mandatory considering the risk of 8.3% of second events especially in cases with risk factors.

Purpose To evaluate feasibility and outcomes of minimally invasive surgery (MIS) in Wilms tumor (WT). Methods International multicenter review of MIS total nephrectomies for WT between 2006 and 2018. Medical records of confirmed WT were retrospectively assessed for demographic, imaging, treatment, pathology, and oncological outcome data. Results Fifty patients, with a median age of 38 months (6-181), were included in 10 centers. All patients received neoadjuvant chemotherapy, as per SIOP protocol. Median tumor volume post-chemotherapy was 673 mL (18-3331), 16 tumors crossed the lateral border of the spine, and three crossed the midline. Six patients with tumors that crossed the lateral border of the spine (tumor volumes 1560 mL [299-2480]) were converted to an open approach. There was no intraoperative tumor rupture. Overall, MIS was completed in 19% of the 195 nephrectomies for WT presenting during the study period. Tumor was stage I in 29, II in 16, and III in 5, and histology was reported as low in three, intermediate in 42, and high risk in five. Three patients had positive tumor margins. After a median follow-up of 34 months (2-138), there were two local recurrences (both stage I, intermediate risk, 7 and 9 months after surgery) and one metastatic relapse (stage III, high risk, four months after surgery). The three-year event-free survival was 94%. Conclusion MIS is feasible in 20% of WT, with oncological outcomes comparable with open surgery, no intraoperative rupture, and a low rate of local relapse. Ongoing surveillance is, however, needed to evaluate this technique as it becomes widespread.

To evaluate the status of congenital diaphragmatic hernia (CDH) management in France and to assess predictors of adverse outcomes.We reviewed the first-year outcome of all cases of CDH reported to the French National Register in 2011.A total of 158 cases were included. Of these, 83% (131) were prenatally diagnosed, with a mortality rate of 39% (44 of 112) for live born infants with a known outcome at hospital discharge. Mortality increased to 47% (60 of 128) including those with termination of pregnancy and fetal loss. This contrasts with the 7% (2 of 27) mortality rate of the patients diagnosed postnatally (P = .002). Mortality worsened with 1 prenatal marker of CDH severity (OR 3.38 [1.30-8.83] P = .013) and worsened further with 2 markers (OR 20.64 [5.29-80.62] P .001). Classic postnatal risk factors of mortality such as side of hernia (nonleft P = .001), prematurity (P .001), low birth weight (P = .002), and size of the defect (P .001) were confirmed. Of the 141 live births (114 prenatal and 27 postnatal diagnosis) with known outcomes, 93 (67%) survived to hospital discharge, 68 (60%) with a prenatal diagnosis and 25 (93%) with a postnatal diagnosis. The median time to hospital discharge was 34 days (IQR, 19.25-62). Of these survivors, 71 (76%) were followed up for 1 year.Despite advances in management of CDH, mortality was high and associated with prenatal risk factors. Postnatally, severe persistent pulmonary hypertension was difficult to predict and presented persistent challenges in management.

Thoracic surgery for pediatric tumors may induce a large variety of sequelae that mainly concern skin, muscles and bones (ribs), thoracic nerve and spinal cord and respiratory system. Muscle-sparing thoracotomy, intrathoracic expanders inserted after right pneumonectomy, early orthopedic evaluation and follow-up are useful preventive proceedings able to decrease postoperative sequelae. Surgery for abdominal tumors in children is part of a sequence where each therapeutic treatment can induce its own sequelae possibly potentiated by other therapies. Scars and occlusions represent classic effects, others like diarrhea, intestinal ischemia may require specific and sometimes partially effective long-term treatment. The pelvic cavity is characterized by an anatomy dedicated to urinary and digestive continence and reproductive functions. The oncologic resection of tumors developed in this region exposed to significant risk of sequelae that may strongly affect the quality of life. The development of conservative approaches for local treatment and of fertility preservation techniques has significantly reduced this morbidity and must be known by the surgeon to optimize the therapeutic strategy.

Sternal clefts are extremely rare in association with complex congenital heart defects, and their management can be challenging. Complete surgical repair in early infancy, of both anomalies in a single stage, is advocated. Different surgical techniques exist for isolated sternal cleft repair, but they do not consider the difficulties of combining sternal defect closure and a cardiac operation with the unavoidable postoperative cardiac edema. We describe a successful surgical technique to repair a sternal cleft in a 3-month-old infant in a concomitant cardiac operation using an absorbable polyglactin 910 mesh plate and sternal osseous autografting to avoid postoperative cardiac distention.

Aortic root aneurysms associated with severe pectus excavatum caused by Marfan's syndrome can be challenging to correct in children. Recent reports suggest single-stage correction of both cardiac and chest wall deformities through a median sternotomy. We report a 9-year-old girl with Marfan's syndrome, an ascending aorta aneurysm, mitral regurgitation, and pectus excavatum, who underwent David's procedure with mitral valve repair and the Nuss procedure to correct the thoracic deformity. This single-stage combined procedure was performed through a left anterolateral thoracotomy. This surgical approach offers easy access to the heart and aorta, has good cosmetic results, and avoids a midline skin incision.

Resume Les cancers de l'enfant sont des pathologies rares, representant moins de 1 % de l'ensemble des cancers. Les progres realises par les groupes cooperatifs nationaux et internationaux permettent aujourd'hui de guerir 75 % d'entre eux. Certaines histologies ont cependant une incidence si faible que les connaissances ne permettent pas d'etablir une prise en charge standardisee. Afin d'ameliorer les connaissances scientifiques sur ces tumeurs, une organisation nationale et une collaboration europeenne sont necessaires. Un comite des tumeurs rares s'est constitue au sein de la Societe francaise des cancers de l'enfant et travaille conjointement avec les differents groupes europeens existants. Leurs objectifs sont de mieux connaitre l'incidence reelle de ces tumeurs rares, leur presentation clinique et leur evolution, afin de proposer des recommandations therapeutiques adaptees pour chaque tumeur. Cet article fait le point sur la problematique specifique de l'organisation de la prise en charge de ces tumeurs en France. Il decrit egalement le projet de constitution d'une base de donnees visant a colliger, de maniere prospective, les donnees cliniques, therapeutiques et evolutives de ces patients. Pour aider a une meilleure comprehension de ces maladies, l'equipe editoriale du Bulletin du cancer a decide de publier regulierement une mise au point sur les tumeurs rares pediatriques dans le cadre d'une rubrique specifique.

International audience; OBJECTIVE: Evaluate neonatal management and outcome of neonates with either a prenatal or a post-natal diagnosis of EA type III.STUDY DESIGN: Population-based study using data from the French National Register for EA from 2008to 2010. We compared children with prenatal versus post-natal diagnosis in regards to prenatal, maternal and neonatal characteristics. We define a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and mortality at 1year.RESULTS: Four hundred and eight live births with EA type III were recorded with a prenatal diagnosis rate of 18.1%. Transfer after birth was lower in prenatal subset (32.4% versus 81.5%, PCONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity related to the EA type (longer gap). Even if it does not modify neonatal management and 1-year outcome, prenatal diagnosis allows antenatal parental counseling and avoids post-natal transfer.; ObjectifÉvaluer l’impact du diagnostic anténatal sur la prise en charge néonatale et le devenir à 1an des nouveaux-nés suivis pour atrésie de l’œsophage (AO) de type III.Matériel et méthodesÉtude de population issue du registre national des atrésies de l’œsophage avec inclusion de tous les cas d’AO de type III entre 2008et 2010. Deux groupes ont été constitués: les cas ayant bénéficié d’un dépistage anténatal et ceux dont l’atrésie de l’œsophage a été découverte à la naissance. Une variable composite de morbidité (lâchage de suture, fuite de l’anastomose, sténose œsophagienne) et de mortalité à 1an a été définie.RésultatsQuatre cent huit cas d’atrésie de l’œsophage de type 3ont été inclus avec un taux de dépistage anténatal de 18,1%. Le taux de transfert après la naissance était plus faible dans le groupe DAN (32,4% versus 81,5%, pConclusionLes cas diagnostiqués en anténatal ont une morbidité plus élevée liée au type d’atrésie de l’œsophage (défects plus longs). Même si le diagnostic anténatal ne modifie pas la prise en charge néonatale et la survie à 1an, il permet une information des parents et une préparation de la naissance dans un centre de néonatologie adapté.

International audience; OBJECTIVE: Our study aimed at (1) evaluating neonatal treatment and outcome of neonates with either a prenatal or a postnatal diagnosis of esophageal atresia (EA) and (2) analyzing the impact of prenatal diagnosis on outcome based on the type of EA.STUDY DESIGN: We conducted a population-based study using data from the French National Register for infants with EA born from 2008-2010. We compared prenatal, maternal, and neonatal characteristics among children with prenatal vs postnatal diagnosis and EA types I and III. We defined a composite variable of morbidity (anastomotic esophageal leaks, recurrent fistula, stenosis) and death at 1 year.RESULTS: Four hundred sixty-nine live births with EA were recorded with a prenatal diagnosis rate of 24.3%; 82.2% of EA type I were diagnosed prenatally compared with 17.9% of EA type III (P < .001). Transfer after birth was lower in case of prenatal diagnosis (25.6% vs 82.5%; P < .001). The delay between birth and first intervention did not differ significantly among groups. The defect size was longer among the prenatal diagnosis group (2.61 vs 1.48 cm; P < .001). The composite variables were higher in prenatal diagnosis subset (44% vs 27.6%; P = .003) and in EA type I than in type III (58.1% vs 28.3%; P < .001).CONCLUSION: Despite the excellent survival rate of EA, cases with antenatal detection have a higher morbidity rate related to the EA type (type I and/or long gap). Even though it does not modify neonatal treatment and the 1-year outcome, prenatal diagnosis allows antenatal parental counselling and avoids postnatal transfers.

Background The aim of the present national prospective population-based study was to assess the early morbidity of esophageal atresia (EA). Methods All 38 multidisciplinary French centers that care for patients with EA returned a specific questionnaire about the 1-year outcome for each patient. This information was centralized, checked, and entered into a database. Results From the total population of 307 EA patients born in 2008 and 2009, data about the 1-year outcome were obtained from 301 (98%) patients, of whom 4% were lost to follow-up and 5% died. Medical complications occurred in 34% of the patients: anastomotic leaks (8%), recurrent tracheoesophageal fistula (4%), and anastomotic stenosis (22%); all of the latter group needed dilation (median, 2 dilations/patient). A new hospitalization was required for 59% of patients (2.5 hospitalizations/patient) for digestive (52%) or respiratory (48%) reasons. Twelve percent of patients required antireflux surgery at a median age of 164 days (range, 33–398 days), and 1% underwent an aortopexy for severe tracheomalacia. The weight/age Z-score was −0.8 (range, −5.5 to 3.7 months) at 12 months. Fifteen percent of patients were undernourished at 12 months of age, whereas 37% presented with respiratory symptoms and 15% had dysphagia at the last follow-up. Significant independent factors associated with medical complications were anastomotic esophageal tension (p = .0009) and presence of a gastrostomy (p = .0002); exclusive oral feeding at discharge was associated with a decreased risk of complications (p = .007). Conclusions Digestive and respiratory morbidities remain frequent during the first year of life and are associated with difficult anastomosis and lack of full oral feeding. Electronic supplementary material The online version of this article (doi:10.1186/s13023-014-0206-5) contains supplementary material, which is available to authorized users.

The endoscopic subureteral injection of tissue-bulking agents has become an established alternative to long-term antibiotic prophylaxis and open surgery with a high success rate, especially for low-grade reflux (90%). Though it is recognized that a routine postoperative voiding cystourethrography (VCUG) is unnecessary following a ureteroneocystostomy, most teams perform one after an endoscopic treatment.In this paper, we report on our experience with the endoscopic correction of vesicoureteral reflux in 72 ureteral units, for whom no routine postoperative cystography was performed.Two children presented with postoperative recurrent febrile urinary tract infections (UTIs), which were not correlated with cystography findings. Postoperative VCUGs after a ureteroneocystostomy are invasive and expose the child to radiation, they are associated with a substantial cost, and most of all, they do not allow the identification of those patients at risk of recurrent febrile UTIs. Further, the endoscopic subureteral injection of tissue-bulking agents have been used for several years, and numerous studies, set in various clinical settings, have since been published, confirming excellent long-term results for low-grade reflux.We feel that postoperative cystograms should be reserved for children who present with recurrent UTIs, new sonographic abnormalities, or who were treated for high-grade reflux.

International audience; PURPOSE: A prospective national register was established in 2008 to record all new cases of live-birth newborns with esophageal atresia (EA). This epidemiological survey was recommended as part of a national rare diseases plan.METHODS: All 38 national centers treating EA participated by completing for each patient at first discharge a questionnaire validated by a national committee of experts. Data were centralized by the national reference center for esophageal anomalies. Quantitative and qualitative analyses were performed, with P-values of less than 0.05 considered statistically significant. Results of the 2008-2009 data collection are presented in this report.RESULTS: Three hundred seven new living cases of EA were recorded between January 1, 2008, and December 31, 2009. The male/female sex ratio was 1.3, and the live-birth prevalence of EA was 1.8 per 10,000 births. Major characteristics were comparable to those reported in the literature. Survival was 95%, and no correlation with caseload was noted.CONCLUSIONS: Epidemiologic surveys of congenital anomalies such as EA, which is a rare disease, provide valuable data for public health authorities and fulfill one important mission of reference centers. When compared with previous epidemiological data, this national population-based registry suggests that the incidence of EA remains stable.

Tubular colonic triplication is an extremely rare hindgut malformation, with only 2 reports in the literature to date. The present authors describe the new and unusual case of a boy born with an imperforate anus, rectovesical fistula, and 3 distinct left colons. The bladder was divided by an incomplete septum. Prenatal ultrasound suggested colonic duplication. Surgical management involved resection of the triplicated segment and posterosagittal anorectal pull through.

Glomus tumors are rare distinctive benign neoplasms, which arise from modified smooth muscle cells of the normal glomus body and are most commonly located in the subungual region of the finger. Intraabdominal locations are relatively rare. We report a case of glomus tumor of the mesocolon in a 10-year-old girl. Surgical exploration showed a lesion in the transverse mesocolon, which was excised. Histopathology showed it to be a glomus tumor of the mesocolon.

Introduction l’incidence de l’atresie de l’œsophage (AO) est mal connue et varie entre 1/2500 a 1/4600 naissances. Le but de ce travail est de presenter les donnees 2008 du registre national de l’AO (metropole plus DOM TOM). Methodes des fiches d’inclusion ont ete remplies par tous les centres prenant en charge une AO et saisies et analysees par le centre de reference. Les DIM de chaque centre ont ete contactes ainsi que 4 registres regionaux de malformations pour augmenter le nombre et l’exhaustivite des sources. Resultats 142 nouveaux cas ont ete declares pour l’annee 2008 (incidence = 1/5824 naissances). Il existait une predominance de garcons ( n = 83), le poids de naissance moyen etait de 2527 g avec un terme de 37 SA. Un diagnostic antenatal etait possible dans 17 % des cas. Il y avait 15 atresies de type I et 123 de type III. Le diagnostic etait pose dans les 24h dans 89 % des cas et la chirurgie initiale realisee avant 48h dans 94 % pour le type III. Le taux des malformations associees etait de 53 % et la mortalite globale de 5 %. Conclusions Ces premiers resultats montrent une incidence de l’AO similaire a celle observee par le registre Europeen des malformations. Le diagnostic antenatal reste rare mais la prise en charge dans notre pays est precoce et la mortalite faible.