Abstract
The term of Bannayan-Riley-Ruvalcaba syndrome (BRRS) has been suggested first by M. Michael Cohen Jr. in a letter to the American Journal of Medical Genetics (Cohen 1990). He lumped three already recognized syndromes combining the names of their first authors. For the sake of historical truth, (1960) were the first ones to report on the association of macrocephaly, pseudopapilledema and multiple hemangiomata. Subsequently, (1971) published on the combination of multiple lipomas, angiomas and macrocephaly, which was reported afterwards by (1976). (1980) described two males with macrocephaly, intestinal poliposis, and pigmentary spotting of the penis. Further reports (Halal 1982, 1983) confirmed the existence of this condition, which was considered distinct from Sotos syndrome by (1982) and called Ruvalcaba- Myhre syndrome. Additional reports from (1982, 1983) were published naming it Ruvalcaba-Myhre-Smith syndrome.
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Romano, C. (2008). Bannayan-Riley-Ruvalcaba Syndrome. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_29
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DOI: https://doi.org/10.1007/978-3-211-69500-5_29
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