Journal article
Characterization of Limb Differences in Children With Cornelia de Lange Syndrome
American journal of medical genetics. Part C, Seminars in medical genetics, v 172(2)
01 Jun 2016
PMID: 27120260
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
Cornelia de Lange syndrome (CdLS) is a well-described multisystem developmental disorder characterized by dysmorphic facial features, growth and behavioral deficits, and cardiac, gastrointestinal, and limb anomalies. The limb defects seen in CdLS can be mild, with small feet or hands only, or can be severe, with variable deficiency defects involving primarily the ulnar structures and ranging from mild hypoplasia of the fifth digit to complete absence of the forearm. Interestingly, the upper limbs are typically much more involved than the lower extremities that generally manifest with small feet and 2-3 syndactyly of the toes and shortened fourth metatarsal. The upper limbs often manifest asymmetric involvement. The limb findings in our cohort of 378 individuals with CdLS demonstrate a consistent pattern of laterality and symmetry involvement (with increased severity of right-sided limb in individuals with asymmetric limb defects) and a correlation of more significant limb defects with an increased risk of other structural anomalies, and more severe behavioral outcomes. Additionally, we found that individuals with mutations in NIPBL were most likely to have limb defects compared to mutations in other genes with nonsense, exonic deletion, and frameshift mutations being most prevalent in those with limb defects. Characterization of the limb differences in children with CdLS may provide a tool to assist in genetic counseling and determining prognosis. This paper will review the limb involvement in a large cohort of individuals with CdLS assessing the correlation with molecular etiologies, symmetry, additional structural birth defects, and cognitive outcomes. (C) 2016 Wiley Periodicals, Inc.
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Details
- Title
- Characterization of Limb Differences in Children With Cornelia de Lange Syndrome
- Creators
- Devanshi Mehta - Childrens Hosp Philadelphia, Ian Krantzs Lab, Div Human Genet, Philadelphia, PA 19104 USASamantha A. Schrier Vergano - College Station Medical CenterMatthew Deardorff - Childrens Hosp Philadelphia, Philadelphia, PA 19104 USASarika AggarwalAkash BarotDrew M. JohnsonNathan F. MillerSarah E. Noon - Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USAManinder Kaur - Childrens Hosp Philadelphia, Div Human Genet, Dr Ian Krantzs Lab, Philadelphia, PA 19104 USALaird Jackson - Drexel Univ, Coll Med, Med Pediat & Obstet & Gynecol, Philadelphia, PA 19104 USAIan D. Krantz - Supreme Council Of HealthSandeep Aggarwal
- Publication Details
- American journal of medical genetics. Part C, Seminars in medical genetics, v 172(2)
- Publisher
- Wiley
- Number of pages
- 8
- Grant note
- P01HD052860 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA NIH/NICHD PO1-HD052860 / CdLS Foundation
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000384742800014
- Scopus ID
- 2-s2.0-84966480725
- Other Identifier
- 991019319083104721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity