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Rothmund-Thomson syndrome (Poikiloderma congenitale) associated with mental retardation, growth disturbance, and skeletal features

Abstract

Poikiloderma congenitale is a distinctive atrophic dermatosis with onset during infancy. Extracutaneous abnormalities are frequently present. The authors describe a child with poikiloderma congenitale, psychomotor retardation, growth retardation, radial hypoplasia, absence of the thumbs, and foci of abnormal bone in many of the long bones. Although the term Rothmund-Thomson syndrome has been applied to all patients with poikiloderma congenitale regardless of the type of associated extracutaneous abnormalities, patients with severe growth retardation, major skeletal abnormalities, and ectodermal dysplasia who do not have juvenile cataracts appear to represent a distinct subgroup; several patients with these features have been mentally retarded.

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Kassner, E.G., Qazi, Q.H. & Haller, J.O. Rothmund-Thomson syndrome (Poikiloderma congenitale) associated with mental retardation, growth disturbance, and skeletal features. Skeletal Radiol. 2, 99–103 (1977). https://doi.org/10.1007/BF00360989

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  • DOI: https://doi.org/10.1007/BF00360989

Key words

  • Rothmund-Thomson syndrome
  • Poikiloderma congenitale
  • Mental retardation
  • Radial hypoplasia
  • Absence of the thumb
  • Bone disease