Bannayan-Riley-Ruvalcaba syndrome

(redirected from BRRS)
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Bannayan-Riley-Ruvalcaba syndrome

A rare autosomal dominant disorder (OMIM:153480) characterised by: excessive growth before and after birth; increased birth weight and length; macrocephaly often with scaphocephaly; normal intelligence or mild mental retardation; multiple subcutaneous hamartomas, lipomas, macrocephaly and hemangiomas; ocular defects (strabismus, ocular hypertelorism, exotropia and/or pseudopapilledema, hypotonia); drooling; delayed speech development and/or significant delay in developmental milestones (sitting, standing, walking); hamartomatous polyps in gastrointestinal tract and oropharynx; marbled  skin pigmentation (cutis marmorata and pigmented macules on the penis or vulva); and myopathy.

Molecular pathology
Like Peutz-Jeghers syndrome, juvenile polyposis, Cowden syndrome, Proteus syndrome and Proteus-like syndrome, Bannayan-Riley-Ruvalcaba syndrome is caused by mutations of PTEN, all of which are known as PTEN hamartoma-tumour syndromes.
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References in periodicals archive ?
BRRS, the pediatric form of PHTS, was first described in 1971 (7).
The risk of cancer associated with BRRS is still unclear (9).
Intestinal hamartomatous polyp development has been reported in 35-40% of cases of BRRS (14).
Near the end of the school year (approximately 6 weeks after the final lessons), teachers were again asked to complete a BRR for each student in their class, and the school counselor collected the instruments and delivered them to the researchers.
As such, the researchers developed the BRR tool to aid the school counselor in developing competencies on which teachers could rate their students in five Behavior Standards from the Mindsets & Behaviors: apply self-motivation and self-direction to learning (Learning Strategies-4); demonstrate self-discipline and self-control (Self-Management Skills-2); demonstrate effective coping skills when faced with a problem (Self-Management Skills-7); use effective listening skills (Social Skills-1); and create positive and supportive relationships with other students (Social Skills-2).
To develop the BRR, the authors sought input from K-3 teachers at three elementary schools in the Midwest (including the study site).