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Literature DB >> 17710875

Woodhouse-Sakati syndrome: case report and symptoms review.

Abstract

We report on a 52-year old Caucasian woman exhibiting signs of Woodhouse - Sakati syndrome and review the clinical signs and symptoms in patients reported so far. The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance. We also propose that the limited mobility of the upper extremities is one of the features of the syndrome.

Entities: Disease Species

Mesh：

Year: 2007 PMID： 17710875

Source DB: PubMed Journal: Genet Couns ISSN： 1015-8146

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Cited

7 in total

Review 1. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

Authors: M Agopiantz; P Corbonnois; A Sorlin; C Bonnet; M Klein; N Hubert; V Pascal-Vigneron; P Jonveaux; T Cuny; B Leheup; G Weryha
Journal: J Endocrinol Invest Date: 2014-01-08 Impact factor: 4.256

2. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

Authors: Anas M Alazami; Amr Al-Saif; Abdulaziz Al-Semari; Saeed Bohlega; Soumaya Zlitni; Fatema Alzahrani; Prashant Bavi; Namik Kaya; Dilek Colak; Hanif Khalak; Andy Baltus; Borut Peterlin; Sumita Danda; Kailash P Bhatia; Susanne A Schneider; Nadia Sakati; Christopher A Walsh; Futwan Al-Mohanna; Brian Meyer; Fowzan S Alkuraya
Journal: Am J Hum Genet Date: 2008-11-20 Impact factor: 11.025

7. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.

Authors: Molly B Sheridan; Elizabeth Wohler; Denise A S Batista; Carolyn Applegate; Julie Hoover-Fong
Journal: Case Rep Genet Date: 2015-11-17

7 in total

Woodhouse-Sakati syndrome: case report and symptoms review.

Review 1. Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.

2. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.

3. Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.

4. Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation.

5. Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

6. Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.

7. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.