2017
DOI: 10.1177/2329048x17738625
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X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia

Abstract: X-linked lissencephaly with abnormal genitalia is a rare and devastating syndrome. The authors present an infant with a multisystem phenotype where the intestinal manifestations were as life limiting as the central nervous system features. Severe chronic diarrhea resulted in failure to thrive, dehydration, electrolyte derangements, long-term hospitalization, and prompted transition to palliative care. Other multisystem manifestations included megacolon, colitis, pancreatic insufficiency hypothalamic dysfunctio… Show more

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Cited by 6 publications
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References 26 publications
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