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TITLE:

MECKEL GRUBER SYNDROME: CLASSICAL CLINICAL DIAGNOSIS OF A CASE IN A NON-CONSANGUINEOUS MARRIAGE

AUTHORS:

Dr Rasham Kareem, Dr Muhammad Saed Akhtar, Dr. Hafiz Khalil Ahmad

ABSTRACT:

Abstract: Meckel gruber syndrome or dysencephalia splanchnocystica, is a rare autosomal recessive disorder caused by failure of mesodermal induction. Worldwide incidence of MGS is 1 per 13,500-140,000 live births. It is characterized by triad of occipital Meningoencephalocele, polycystic kidneys and post-axial polydactyly. Most fetuses affected with this syndrome die before birth due to oligohydramnios, renal failure or pulmonary hypoplasia. We report a rare case of MGS who delivered live at birth with classical features. Key Words: Non consanguinity, Occipital encephalocele, Polysystic kidney,post axial Polydactyly.

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