Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients
Ines Ouertani1*, Myriam Chaabouni1, Imen Chelly2, Lilia Kraoua1, Faouzi Maazoul1, Mediha Trabelsi1, Rym Meddeb1, Rafik Boussaada3, Hatem Azzouz4, Fatma Charfi5, Emira Ben Hamida6, Ahmed Meherzi7, Ridha Mrad1, Habiba Bouhamed-Chaabouni1
1Service des Maladies Congénitales et Héréditaires, Hôpital Charles Nicolle, Tunis, Tunisie.
2Service de Pédiatrie, Hôpital Régional de Bizerte, Bizerte, Tunisie.
3Service de Cardiologie Pédiatrique, Hôpital la Rabta, Tunis, Tunisie.
4Service de Pédiatrie, Hôpital la Rabta, Tunis, Tunisie.
5Service de Pédopsychiatrie, Hôpital Razi, La Mannouba, Tunisie.
6Service de Néonatologie, Hôpital Charles Nicolle, Tunis, Tunisie.
7Service de Pédiatrie, Hôpital Mongi Slim, La Marsa, Tunisie.
DOI: 10.4236/ojgen.2014.45036   PDF   HTML     5,623 Downloads   6,762 Views   Citations


Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too (12/38). Dental malformations were frequent (22/32). Idiopathic hypercalcemia was present in 50% of children less than one year (2/4). Conclusions: WBS was a rare disorder, cardinal signs (facial dysmorphism, mental retardation and cardiovascular defects) were found in our patients in the same proportions than described. The occasional clinical signs have proportion different of precedent reported like hypercalcemia, ocular and dental anomalies. The identification of the different clinical signs in WBS patients permits to establish a strategy of follow up.

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Ouertani, I. , Chaabouni, M. , Chelly, I. , Kraoua, L. , Maazoul, F. , Trabelsi, M. , Meddeb, R. , Boussaada, R. , Azzouz, H. , Charfi, F. , Hamida, E. , Meherzi, A. , Mrad, R. and Bouhamed-Chaabouni, H. (2014) Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients. Open Journal of Genetics, 4, 385-391. doi: 10.4236/ojgen.2014.45036.

Conflicts of Interest

The authors declare no conflicts of interest.


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