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Resume Introduction La dystrophie musculaire des ceintures de type 1B (LGMD1B), due a des mutations du gene LMNA , associe une faiblesse musculaire des ceintures a une atteinte cardiaque caracterisee par des troubles de la conduction auriculo-ventriculaire et une cardiomyopathie dilatee. Elle reste une forme peu connue de dystrophie des ceintures, et seulement 7 mutations du gene LMNA ont ete decrites comme etant responsables d’une LGMD1B. Le diagnostic clinique et genetique de cette myopathie est essentiel pour assurer la prise en charge de l’atteinte cardiaque et le conseil genetique. Patients et methodes Nous decrivons l’atteinte musculaire et cardiaque de 14 patients appartenant a 8 familles chez qui ont ete identifiees 6 mutations differentes, dont 4 nouvelles, du gene LMNA . Resultats Onze patients avaient une LGMD1B avec une atteinte scapulo-humerale et pelvi-femorale. Treize patients avaient une atteinte cardiaque. Des troubles de la conduction etaient presents chez 12 patients, et des troubles du rythme chez 9 patients. Sept patients ont beneficie de l’implantation d’un pacemaker ou d’un defibrillateur. Une transplantation cardiaque fut pratiquee dans 2 cas. Conclusion Cette etude permet de preciser les principales caracteristiques cliniques de cette affection musculaire ainsi que les premieres relations phenotype/genotype resultant de ces nouvelles observations.

Background Sotos syndrome is one the most common overgrowth conditions, after Beckwith-Wiedemann syndrome. As with other overgrowth syndromes, Sotos syndrome can be associated with an increased risk of tumors. Case We describe a young girl with Sotos syndrome and ovarian fibromatosis with a new mutation not reported before in the literature. Summary and Conclusion Development of ovarian tumor in Sotos syndrome has been poorly documented. Ovarian fibromatosis is a very rare non neoplastic disease. Management is guided by the benignity of the lesion and consists of surgical excision of the fibroma.

Resume Les nephroblastomes ou numerus de Wilms, frequentes parmi les tumeurs de l'enfant, sont parfois associees a des malformations congenitales (7 a 10 % des cas), dont l'aniridie. Celle-ci est l'element le plus constant du syndrome WAGR qui comporte en outre des anomalies genito-urinaires, un retard mental, et dans un tiers des cas une tumeur de Wilms. Nous presentons deux cas d'enfants atteints d'aniridie avec nephroblastome fœtal rhabdomyomateux. Observations. Cas 1. Une enfant de 1 an est hospitalisee pour hematurie macroscopique ; elle est atteinte d'aniridie congenitale. L'echographie abdominale et la tomodensitometrie mettent en evidence une volumineuse tumeur sur chaque rein. Elle est traitee par actinomycine et vincristine sans que le volume tumoral ne diminue. Une tumorectomie bilaterale est realisee a 6 mois du diagnostic. L'examen anatomopathologique retrouve un nephroblastome fœtal rhabdomyomateux. L'enfant est en remission a 6 ans du diagnostic. Cas 2. Le deuxieme enfant est suivi lui aussi pour aniridie congenitale et le diagnostie de nephroblastome du rein droit est fait a l'âge de 2 ans. La chimiotherapie preoperatoire comporte actinomycine et vincristine selon le protocole SIOP no 9. La nephrectomie droite est effectuee apres 1 mois de traitement et met en evidence un nephroblastome fœtal rhabdomyomateux. L'enfant est toujours en remission a 5 ans. Conclusion. Ces deux observations de nephroblastome fœtal rhabdomyomateux semblent etre les premieres rapportees dans le cadre du syndrome WAGR.

Objectives The 22q11 microdeletion is a chromosomal disorder detected by fluorescence in situ hybridization (FISH). It has been known since the 80s, and is involved in many malformative syndromes (DiGeorge sequence, VCFS syndrome, etc.). Airway abnormalities are frequently localized in the larynx, as reported in the following series. Methods A retrospective chart review of laryngeal abnormalities and 22q11 deletion in a tertiary referral center. Results Five cases of laryngeal abnormalities associated to 22q11 deletion syndrome (DS) were found in a series of 35 cases. Abnormalities encountered were subglottic stenosis (3%), glottic web (9%), laryngeal paralysis (9%), vocal nodule (3%), laryngomalacia (3%) associated with bronchial malposition (3%). Conclusion Laryngeal abnormalities are relatively common (14% in this series) and important to recognize with the 22q11 deletion syndrome, especially if cardiac surgery is planed. Conversely, in case of laryngeal abnormalities associated to other malformation (like facial dysmorphia or cardiac malformation), the 22q11 deletion must be searched.

Background: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease caused by mutations in sarcomeric genes. However, extensive genetic screening failed to identify a mutation in about a third of cases. One possible explanation is that other diseases, caused by other genes, may mimic HCM. Objective: To investigate the possible involvement of Danon’s disease, an X linked lysosomal disease, in a large population of patients with HCM. Methods: A population of 197 index cases was considered; 124 were subsequently excluded because of a mutation in sarcomeric genes and 23 because of autosomal dominant inheritance. Fifty index cases were therefore included in molecular analysis (direct sequencing) of the lysosome associated membrane protein 2 (LAMP2) gene responsible for Danon’s disease. Results: Two new mutations leading to premature stop codons were identified in patients who evolved towards severe heart failure ( T and 173_179del. The prevalence was therefore 1% of the total population (two of 197) or 4% of enrolled index cases (two of 50). Interestingly, Danon’s disease was responsible for half of the cases (two of four) with HCM and clinical skeletal myopathy but was not involved in isolated HCM (none of 41). Conclusions: Danon’s disease may be involved in patients with previously diagnosed as HCM. A diagnosis strategy is proposed. To distinguish HCM from Danon’s disease is important because the clinical evolution, prognosis, mode of inheritance, and therefore genetic counselling are very different.