Send to:

Choose Destination
See comment in PubMed Commons below
Tijdschr Kindergeneeskd. 1991 Dec;59(6):219-23.

[An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].

[Article in Dutch]

Author information

  • 1Afd. Kindergeneeskunde, Academisch Ziekenhuis Nijmegen.


An infant with short stature and progressive skin lesions of cheeks and dorsum of the hands is described. Further problems such as recurrent diarrhoea and respiratory infections suggested zinc-deficiency, malabsorption-syndrome, Bloom syndrome and early Lupus Erythematosus respectively. Finally Rothmund-Thomson syndrome was diagnosed. This rare genetic disorder is characterized by variable expression of typical cutaneous changes, cataracts, skeletal anomalies, short stature, abnormal hair growth and defective nails and teeth, mental retardation, hypogonadism and a typical facial appearance.

[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Loading ...
    Write to the Help Desk