Menkes disease complicated by concurrent Koolen ‐de Vries syndrome (17q21.31 deletion)

ConclusionMenkes disease and KdV syndrome may both present with hypotonia and abnormal hair, in addition to seizures and failure to thrive. While these genetic conditions have overlapping clinical features, they have different natural histories and different therapeutic options. Here, we report on a patient affected with both disorders and review the diagnostic and therapeutic difficulties this presented.

Source: Molecular Genetics & Genomic Medicine - June 27, 2019 Category: Genetics & Stem Cells Authors: Taylor Woodfin, Christine Stoops, Joseph B. Philips, Edward Lose, Fady M. Mikhail, Anna Hurst Tags: CLINICAL REPORT Source Type: research