Bannayan-Riley-Ruvalcaba syndrome (BRRS): clinical features
Evidence-based neurology checklist on bannayan-riley-ruvalcaba syndrome (brrs): clinical features: Neurological features Macrocephaly Neurodevelopmental delay Cortical dysplasia: case report Proximal myopathy Dysmorphic features Thyroid disorders Other endocrine features Mesodermal hamartomas…
Neurological features
- Macrocephaly
- Neurodevelopmental delay
- Cortical dysplasia: case report
- Proximal myopathy
Dysmorphic features
Thyroid disorders
Other endocrine features
Mesodermal hamartomas
Skeletal features
Cancer risk
Other features
Diagnostic features
References
- Ozsu E, Sen A, Ceylaner S. A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty. J Pediatr Endocrinol Metab 2017 doi: 10.1515/jpem-2017-0250. (Epub ahead of print).
- Piccione M, Fragapane T, Antona V, Giachino D, Cupido F, Corsello G. PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol. Am J Med Genet A 2013; 161A:2902-2908.
- Peiretti V, Mussa A, Feyles F, et al. Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. J Clin Res Pediatr Endocrinol 2013; 5:261-265.
- Lynch NE, Lynch SA, McMenamin J, Webb D. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. Arch Dis Child 2009; 94:553-554.
- O'Rourke DJ, Twomey E, Lynch SA, King MD. Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding. Clin Dysmorphol 2012; 21:91-92.
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