European Journal of Pediatrics

, Volume 140, Issue 1, pp 5–12 | Cite as

The proteus syndrome

Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections
  • H. -R. Wiedemann
  • G. R. Burgio
  • P. Aldenhoff
  • J. Kunze
  • H. J. Kaufmann
  • E. Schirg
Original Investigations


Four boys are described with partial gigantism of the hands and/or feet, pigmented nevi, hemihypertrophy, subcutaneous hamartomatous tumors and macrocephaly, and/or other skull anomalies. Three of these patients showed an accelerated growth in their first years of life. Two suffered from cystiform pulmonary abnormalities. The children showed normal mental development with the exception of one with traumatic brain damage. Parental consanguinity was not disclosed. As a result of a review of the literature, we can say that these cases do not conform to any well defined entity and would appear to represent a ‘new’ syndrome to be categorized under congenital hamartomatous disorders. The mode of inheritance of the undoubtedly genetically determined syndrome is yet not clearly understood. We propose the term Proteus syndrome for this ‘new’ syndrome.

Key words

Proteus syndrome Macrodactyly Hemihypertrophy Pigmented nevi Skull anomalies Lipomas 


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Copyright information

© Springer-Verlag 1983

Authors and Affiliations

  • H. -R. Wiedemann
    • 1
  • G. R. Burgio
    • 2
  • P. Aldenhoff
    • 3
  • J. Kunze
    • 3
  • H. J. Kaufmann
    • 4
  • E. Schirg
    • 5
  1. 1.University Children's HospitalKielFederal Republic of Germany
  2. 2.Ospedale S, MatteoUniversity Children's HospitalPaviaItaly
  3. 3.University Institute of Human Genetics and Children's Hospital (Kaiserin Auguste Victoria Haus) of the Free UniversityBerlin 19
  4. 4.University Children's Hospital (Kaiserin Auguste Victoria Haus), Department of RadiologyFree UniversityBerlin 19
  5. 5.University Institute of Clinical RadiologyHannover 61FRG

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