Silver-Russell syndrome
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Genetics
- generally sporadic, but may run in families
- maternal uniparental disomy of chromosome 7 in 5-10%
- epigenetic mutations affecting the imprinting centres on chromosome 11p15 in 64%
- methylation defects
- maternally inherited duplications involving all or part of the imprinted region of 11p15
- IGF2
Clinical manifestations
- intrauterine & postnatal growth retardation
- short stature but normal head size
- asymmetry
- decreased subcutaneous fat
- markedly triangular facial shape
Management
- growth hormone for short stature not especially useful
- referral for genetic testing if diagnosis suspected
More general terms
References
- ↑ Abu-Amero S et al The genetic aetiology of Silver-Russell syndrome. J Med Genet 2008 Apr; 45:193 PMID: https://www.ncbi.nlm.nih.gov/pubmed/18156438
- ↑ Bullman H et al Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. J Med Genet 2008 Jun; 45:396. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18474587
- ↑ ARUP Consult: Beckwith-Wiedemann and Russell-Silver Syndromes https://arupconsult.com/ati/beckwith-wiedemann-and-russell-silver-syndromes