Abstract | BACKGROUND: OBJECTIVE: We report 2 patients with Bloom syndrome illustrating the variety in clinical manifestations. They were initially diagnosed with short stature after SGA birth and Silver Russell syndrome and treated with GH. CASES: Both patients presented with pre- and postnatal growth failure but no clear other characteristic features associated with Bloom syndrome. Photosensitive skin lesions developed only at a pubertal age and were minimal. Also, both children showed normal immunoglobulin levels, normal development, and no signs of endocrinopathies at start of GH. Dysmorphic features resembling Silver Russell syndrome were observed in both patients. Remarkably, during GH treatment IGF-1 levels increased to values greater than 3.5 SD score, with normal IGF binding protein-3 levels. CONCLUSION: Short children born SGA comprise a heterogeneous group. Bloom syndrome should be tested for in children with consanguineous parents, dysmorphic features (particularly resembling Silver Russell syndrome), skin abnormalities, and/or IGF-1 levels greater than 2.5 SD score during standard GH treatment with normal IGF binding protein-3 levels.
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Authors | Judith S Renes, Ruben H Willemsen, Anja Wagner, Martijn J J Finken, Anita C S Hokken-Koelega |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 98
Issue 10
Pg. 3932-8
(Oct 2013)
ISSN: 1945-7197 [Electronic] United States |
PMID | 23928670
(Publication Type: Case Reports, Journal Article)
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Chemical References |
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Topics |
- Bloom Syndrome
(diagnosis, drug therapy)
- Child, Preschool
- Contraindications
- Diagnostic Errors
- Female
- Human Growth Hormone
(therapeutic use)
- Humans
- Infant
- Infant, Newborn
- Infant, Small for Gestational Age
- Male
- Silver-Russell Syndrome
(diagnosis, drug therapy)
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