[An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
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.
Leusink
J P
JP
Afd. Kindergeneeskunde, Academisch Ziekenhuis Nijmegen.
Tolboom
J J
JJ
Weemaes
C M
CM
Koopman
R J
RJ
D003937:Diagnosis, Differential; D005260:Female; D006130:Growth Disorders / Q000209:etiology*; D006801:Humans; D007223:Infant; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis*; D013577:Syndrome
Een te kleine zuigeling met rode wangen (het syndroom van Rothmund-Thomson.