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Walker-Warburg Syndrome: A Case with multiple uncommon features.

Hibba A Bedri; Babiker M Mustafa; Yosif M Jadallah.


Abstract
Walker-Warburg syndrome (WWS) is a rare and lethal autosomal recessive disorder, caused by defective glycosylation of α-dystroglycan that is important for muscle integrity and neuronal migration. Mutations in six genes involved in the glycosylation of α-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, and others remain under study. Prenatal diagnosis may be possible by means of prenatal ultrasonography, or magnetic resonance imaging. We report a patient demonstrating the typical clinical features of lissencephaly, congenital muscular dystrophy and ocular abnormalities, in addition to other features including hydrocephalus, occipital encephalocele, agenesis of the corpus collosum, microphthalmia, ventricular septal defect, and rocker bottom feet deformity.

Key words: Congenital muscular dystrophy; Glycosylation of α-dystroglycan; Lissencephaly; Walker-Warburg syndrome


 
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Pubmed Style

Bedri HA, Mustafa BM, Jadallah YM. Walker-Warburg Syndrome: A Case with multiple uncommon features.. Sudan J Paed. 2011; 11(2): 59-63.

Web Style

Bedri HA, Mustafa BM, Jadallah YM. Walker-Warburg Syndrome: A Case with multiple uncommon features.. https://sudanjp.com//?mno=280774 [Access: June 21, 2024].

AMA (American Medical Association) Style

Bedri HA, Mustafa BM, Jadallah YM. Walker-Warburg Syndrome: A Case with multiple uncommon features.. Sudan J Paed. 2011; 11(2): 59-63.


Vancouver/ICMJE Style

Bedri HA, Mustafa BM, Jadallah YM. Walker-Warburg Syndrome: A Case with multiple uncommon features.. Sudan J Paed. (2011), [cited June 21, 2024]; 11(2): 59-63.


Harvard Style

Bedri, H. A., Mustafa, . B. M. & Jadallah, . Y. M. (2011) Walker-Warburg Syndrome: A Case with multiple uncommon features.. Sudan J Paed, 11 (2), 59-63.


Turabian Style

Bedri, Hibba A, Babiker M Mustafa, and Yosif M Jadallah. 2011. Walker-Warburg Syndrome: A Case with multiple uncommon features.. Sudanese Journal of Paediatrics, 11 (2), 59-63.


Chicago Style

Bedri, Hibba A, Babiker M Mustafa, and Yosif M Jadallah. "Walker-Warburg Syndrome: A Case with multiple uncommon features.." Sudanese Journal of Paediatrics 11 (2011), 59-63.


MLA (The Modern Language Association) Style

Bedri, Hibba A, Babiker M Mustafa, and Yosif M Jadallah. "Walker-Warburg Syndrome: A Case with multiple uncommon features.." Sudanese Journal of Paediatrics 11.2 (2011), 59-63. Print.


APA (American Psychological Association) Style

Bedri, H. A., Mustafa, . B. M. & Jadallah, . Y. M. (2011) Walker-Warburg Syndrome: A Case with multiple uncommon features.. Sudanese Journal of Paediatrics, 11 (2), 59-63.




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