Get access

Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype

Authors

  • Hitesh Shah,

    1. Pediatric Orthopedics Service, Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India
    Search for more papers by this author
  • Susanne Bens,

    1. Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany
    Search for more papers by this author
  • Almuth Caliebe,

    1. Institute of Human Genetics, Christian-Albrechts-University Kiel & University Hospital Schleswig-Holstein, Kiel, Germany
    Search for more papers by this author
  • John M. Graham Jr,

    1. Cedars Sinai Medical Center, Medical Genetics Institute, David Geffen School of Medicine at UCLA, Los Angeles, California
    Search for more papers by this author
  • Katta Mohan Girisha

    Corresponding author
    1. Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India
    • Associate Professor, Genetics Clinic, Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal 576104, India.
    Search for more papers by this author

  • Conflict of interest: none to declare.

  • How to Cite this Article: Shah H, Bens S, Caliebe A, Graham JM, Girisha KM. 2012. Growth retardation, intellectual disability, facial anomalies, cataract, thoracic hypoplasia, and skeletal abnormalities: A novel phenotype. Am J Med Genet Part A 158A: 2941–2945.

Abstract

We report on a 14-year-old girl with growth deficiency, microcephaly, intellectual disability, distinctive dysmorphic features (bulbous nose with wide nasal base, hypotelorism, deeply set eyes, protruding cupped ears, and thick lower lip), cataract, pigmentary retinopathy, hypoplastic thorax, kyphoscoliosis, and unusual skeletal changes but without chromosomal imbalances detected by array-CGH who probably represents a novel phenotype. © 2012 Wiley Periodicals, Inc.

Ancillary