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BMJ Case Rep. 2010; 2010: bcr0620103087.
Published online 2010 November 18. doi:  10.1136/bcr.06.2010.3087
PMCID: PMC3028073
Rare disease

Too short stature, too many stigmata

Abstract

Dyskeratosis congenita (DC) is a rare disease characterised by bone marrow failure and skin manifestations. Patients with DC may exhibit short stature that is not usually related to growth hormone (GH) deficiency. Replacement treatment with GH should be done cautiously as it can predispose to haematological malignancy. We present a 10-year-old boy with DC and GH deficiency.


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