Meckel syndrome type1
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Meckel-Gruber syndrome is a lethal, autosomal-recessive disorder classically defined by the triad of large polycystic kidneys (multiple cysts on the kidneys), occipital encephalocele (protrusion of a portion of the brain and its surrounding membranes through a defect in the back or front of the skull), and postaxial polydactyly. [1][2] Affected children may also have abnormalities affecting the head and face, liver, lungs, and genitourinary tract. [3] The leading cause of death in Meckel-Gruber syndrome is pulmonary hypoplasia (underdevelopment of the lungs) which results from oligohydramnios (having too little amniotic fluid) which is caused by kidneys which have failed to develop properly. [1]
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