The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2016
Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
Клинический случайСтатьяОбзорНазвание и аннотация: Перевод в очереди
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Gardner Olivia K, Haynes Karla, Schweitzer Daniela, Johns Alexis, Magee William P, Urata Mark M, Sanchez-Lara Pedro A
Аннотация
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.
Предметные рубрики MeSH
Abdominal MusclesAbnormalities, MultipleAdolescentAdultBlepharoptosisCollectinsConsanguinityCraniofacial AbnormalitiesCraniosynostosesCryptorchidismDevelopmental DisabilitiesEye AbnormalitiesFemaleGene DeletionHeart Defects, CongenitalHip Dislocation, CongenitalHumansMaleMannose-Binding Protein-Associated Serine ProteasesPakistanRisk FactorsStrabismus