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De Lange Syndrome

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Atlas of Genetic Diagnosis and Counseling

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Abstract

In 1933, Cornelia de Lange reported two nonfamilial infant girls with severe mental retardation and multiple abnormalities of the skull, face, and extremities (De Lange 1933). Earlier in 1916, Brachmann had described a child with similar features (Brachmann 1916). The syndrome is also called Brachmann-de Lange syndrome or Cornelia de Lange syndrome. The prevalence is estimated to be 1 in 10,000 births (Opitz 1985).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). De Lange Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_65

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_65

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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