Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis

Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is contraindicated, eg, chromosomal breakage syndromes. Bloom syndrome is a rare chromosomal breakage syndrome characterized by severe pre- and postnatal growth deficiency, a photosensitive facial erythema, immunodeficiency, mental retardation or learning disabilities, endocrinopathies, and a predisposition to develop a wide variety of cancers.

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Het Bloom-syndroom

Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogenHet Bloom-syndroom (BS) is een zeldzame DNA-reparatiestoornis. Dit beeld kan op jonge leeftijd herkend worden aan de hand van de meest kenmerkende symptomen: pre- en postnatale groeiachterstand en...

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Immunodeficiency in Bloom’s Syndrome

Abstract Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLMgene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B...

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