Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach with review of the Literature-Reference-Cited by-同舟云学术

Familial Recurrence of 3MC Syndrome in Consanguineous Families: A Clinical and Molecular Diagnostic Approach with review of the Literature

Published:2017-11 Issue:6 Volume:54 Page:739-748
ISSN:1055-6656
Container-title:The Cleft Palate-Craniofacial Journal
language:en
Short-container-title:The Cleft Palate-Craniofacial Journal

Author:

Gardner Olivia K.¹,Haynes Karla¹,Schweitzer Daniela²,Johns Alexis³,Magee William P.⁴,Urata Mark M.⁵,Sanchez-Lara Pedro A.⁶

Affiliation:

1. Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, California.

2. Division of Plastic and Maxillofacial Surgery and Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, California.

3. Keck School of Medicine, University of Southern California, Division of Plastic and Maxillofacial Surgery, Children's Hospital Los Angeles, Los Angeles, California.

4. Keck School of Medicine, University of Southern California, Los Angeles, California.

5. Division of Plastic and Maxillofacial Surgery, Division of Plastic and Maxillofacial Surgery, Department of Pathology & Pediatrics, Children's Hospital Los Angeles; at CHLA, Keck School of Medicine, and Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, California.

6. Division of Plastic and Maxillofacial Surgery, and Department of Pathology & Pediatrics, Children's Hospital Los Angeles, Clinical Pediatrics, Clinical Pathology, Keck School of Medicine, and Center for Craniofacial Molecular Biology, Ostrow School of Dentistry, University of Southern California, Los Angeles, California.

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.

Publisher

SAGE Publications

Subject

Otorhinolaryngology,Oral Surgery

Link

http://journals.sagepub.com/doi/pdf/10.1597/15-151

Reference40 articles.

1. Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines

2. The impact of consanguinity on neonatal and infant health

3. Reproductive Behavior and Health in Consanguineous Marriages

4. Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs

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