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Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature.
Cleft Palate Craniofac J. 2017 11; 54(6):739-748.CP

Abstract

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.

Authors

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Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

27356087

Citation

Gardner, Olivia K., et al. "Familial Recurrence of 3MC Syndrome in Consanguineous Families: a Clinical and Molecular Diagnostic Approach With Review of the Literature." The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, vol. 54, no. 6, 2017, pp. 739-748.
Gardner OK, Haynes K, Schweitzer D, et al. Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. Cleft Palate Craniofac J. 2017;54(6):739-748.
Gardner, O. K., Haynes, K., Schweitzer, D., Johns, A., Magee, W. P., Urata, M. M., & Sanchez-Lara, P. A. (2017). Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association, 54(6), 739-748. https://doi.org/10.1597/15-151
Gardner OK, et al. Familial Recurrence of 3MC Syndrome in Consanguineous Families: a Clinical and Molecular Diagnostic Approach With Review of the Literature. Cleft Palate Craniofac J. 2017;54(6):739-748. PubMed PMID: 27356087.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach With Review of the Literature. AU - Gardner,Olivia K, AU - Haynes,Karla, AU - Schweitzer,Daniela, AU - Johns,Alexis, AU - Magee,William P, AU - Urata,Mark M, AU - Sanchez-Lara,Pedro A, Y1 - 2016/06/29/ PY - 2016/6/30/pubmed PY - 2018/7/11/medline PY - 2016/6/30/entrez KW - cleft lip and palate KW - genetics KW - microarray KW - molecular diagnostics KW - syndromic orofacial clefting SP - 739 EP - 748 JF - The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association JO - Cleft Palate Craniofac J VL - 54 IS - 6 N2 - 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. SN - 1545-1569 UR - https://www.unboundmedicine.com/medline/citation/27356087/Familial_Recurrence_of_3MC_Syndrome_in_Consanguineous_Families:_A_Clinical_and_Molecular_Diagnostic_Approach_With_Review_of_the_Literature_ L2 - https://journals.sagepub.com/doi/10.1597/15-151?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -