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Familial Recurrence Of 3MC Syndrome In Consanguineous Families: A Clinical And Molecular Diagnostic Approach With Review Of The Literature

Olivia K. Gardner, Karla Haynes, Daniela N Schweitzer, Alexis L. Johns, William P. Magee, Mark M. Urata, Pedro A. Sanchez-Lara
Published 2017 · Medicine
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We report four individuals from two unrelated consanguineous families with 3MC syndrome. In the first family, chromosome microarray data revealed that the two affected sisters, born to first-cousin parents, shared a unique homozygous C-terminal deletion in the COLEC11 gene. Two affected brothers from a second family, also born to first-cousin parents, shared a region of homozygosity that included the second gene known to cause the 3MC syndrome, MASP1. We discuss the diagnostic approach of craniofacial disorders born to consanguineous parents and highlight a literature search and reference a helpful dysmorphology solution powered by FDNA (Facial Dysmorphology Novel Analysis) technology.
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