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    Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.

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    Authors
    Lynch, N E
    Lynch, S A
    McMenamin, J
    Webb, D
    Affiliation
    Department of Neurosciences, Our Lady's Children's Hospital, Crumlin, Dublin 12, , Ireland. nlynch@rcsi.ie
    Issue Date
    2012-02-01T10:24:34Z
    MeSH
    Autistic Disorder/etiology/genetics
    Child
    Child, Preschool
    Craniofacial Abnormalities/etiology/genetics
    DNA Mutational Analysis
    Developmental Disabilities/etiology/genetics
    Female
    Genetic Predisposition to Disease
    Genetic Testing
    Hamartoma Syndrome, Multiple/complications/*diagnosis/genetics
    Humans
    Infant
    Infant, Newborn
    Lipoma/etiology/genetics
    Male
    Motor Skills Disorders/etiology/genetics
    PTEN Phosphohydrolase/genetics
    Retrospective Studies
    Skin Diseases/etiology/genetics
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    Citation
    Arch Dis Child. 2009 Jul;94(7):553-4. Epub 2009 Mar 25.
    Journal
    Archives of disease in childhood
    URI
    http://hdl.handle.net/10147/207421
    DOI
    10.1136/adc.2008.155663
    PubMed ID
    19321504
    Abstract
    BACKGROUND: Bannayan-Riley-Ruvalcaba syndrome (BRRS) is an autosomal dominant condition characterised by macrocephaly, developmental delay and subtle cutaneous features. BRRS results from mutations in the PTEN gene. In adults, PTEN mutations cause Cowden syndrome where, in addition to the macrocephaly, there is a higher risk of tumour development. Diagnosis of BRRS is often delayed as presentation can be variable, even within families. AIMS: To identify characteristics of this condition which might facilitate early diagnosis. Prompt diagnosis not only avoids unnecessary investigations in the child but potentially identifies heterozygote parents who are at risk of tumour development. METHODS AND RESULTS: Six children with a PTEN mutation were identified. All had extreme macrocephaly. Four parents and a male sibling were found to have a PTEN mutation on subsequent testing. Affected parents had extreme macrocephaly and a history of thyroid adenoma, or breast or skin lesions. All six children had presented to medical attention before the age of 2.5 years (3/6 were investigated as neonates), but the median age at diagnosis was 5 years. Four of the children had multiple investigations prior to identification of a PTEN mutation. CONCLUSION: BRRS should be considered in children with extreme macrocephaly as it is the most consistent clinical feature seen, particularly where there is a family history of macrocephaly.
    Language
    eng
    ISSN
    1468-2044 (Electronic)
    0003-9888 (Linking)
    ae974a485f413a2113503eed53cd6c53
    10.1136/adc.2008.155663
    Scopus Count
    Collections
    Children's Health Ireland (CHI) at Crumlin

    entitlement

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