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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.

Abstract

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.

PMID:
1776148
[PubMed - indexed for MEDLINE]
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