9
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

      The Journal of Pediatrics
      Abnormalities, Multiple, genetics, Adolescent, Child, Child, Preschool, Choanal Atresia, Cleft Palate, Coloboma, Craniofacial Abnormalities, DNA Helicases, DNA-Binding Proteins, Ear, External, abnormalities, Facial Paralysis, Female, Genitalia, Growth Disorders, Heart Defects, Congenital, Humans, Infant, Larynx, Male, Mutation, Phenotype, Tracheoesophageal Fistula

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities). Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.

          Related collections

          Author and article information

          Comments

          Comment on this article