J Pediatr Genet 2019; 08(04): 179-186
DOI: 10.1055/s-0039-1695042
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients

1  Department of Clinical Genetics, National Research Centre, Cairo, Egypt
2  Department of Nutrition, National Research Centre, Cairo, Egypt
2  Department of Nutrition, National Research Centre, Cairo, Egypt
Azza E. Abd-Elnaby
3  Department of Human Cytogenetics, National Research Centre, Cairo, Egypt
4  Department of Oro-dental Genetics, National Research Centre, Cairo, Egypt
Angie M.S. Tosson
5  Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt
› Author Affiliations
Funding None.
Further Information

Publication History

02 April 2019

13 June 2019

Publication Date:
04 August 2019 (online)


Prader-Willi syndrome (PWS) is a distinct neurodevelopmental disorder associated with the deletion within the chromosomal 15q11-q13 region or uniparental disomy of chromosome 15. The etiologic heterogeneity of PWS makes it very difficult to establish uniform diagnostic methods which would result in the detection of most affected individuals. The objective was to report the clinical criteria and oro-dental features in PWS, to report the effect of diet and laser acupuncture on PWS and highlighted an easy effective method for early diagnosis of individuals with PWS. The study included seventeen cytogenetically proven individuals with Prader-Willi syndrome. These patients were subjected to meticulous history taking, clinical examination including oro-dental examination, bone densitometry and neuropsychiatric evaluation. They received laser acupuncture sessions in addition to nutrition intervention. All cases had characteristic facies, hypotonia and various psychosocial difficulties. Other criteria of PWS were present in different percentages. Karyotyping revealed deletion 15q11-q13 in 6 patients, and fluorescence in situ hybridization (FISH) revealed a microdeletion in 15q11–q13 in the other 11 patients. To our knowledge, partial ankyloglossia, median grooved tongue and hypodontia have not previously been reported in PWS patients. Laser acupuncture sessions and diet were effective in weight decline for PWS patients. Our study emphasizes the importance of early detection of PWS, laser sessions, diet restriction and oro-dental examination in the follow up of patients with Prader Willi syndrome.

What's New

We report the clinical, oro-dental, cytogenetic and bone density findings of 17 PWS Egyptian patients. Some oro-dental features are documented for the first time. We also delineate a strategy for detection of PWS among infants.

Ethical Approval

This research was reviewed and approved by the Research Ethics Committee at the National Research Centre according to “World Medical Association Declaration of Helsinki” in 1995 (as revised in Seoul 2008) and written consents were obtained.

Authors’ Contributions

H.T.E.: concept and design of the study, N.H.: acquisition of data, I.M.: analysis and interpretation of data, A.E.A.: acquisition of data, M.I.M.: concept and design of the study, A.M.S.T.: drafting the article and revising it critically and final approval of the version.