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Two Children With Macrocephaly, Developmental Delay, and PTEN Mutation.

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Title: Two Children With Macrocephaly, Developmental Delay, and PTEN Mutation.
Authors: Schwab, Joel G.1 jschwab@peds.bsd.uchicago.edu, Pena, Loren2, Waggoner, Darrel2, Pytel, Peter3
Source: Clinical Pediatrics. Jan2009, Vol. 48 Issue 1, p89-92. 4p.
Subject Terms: *Developmental delay, *Child development, Genetic disorders in children, Juvenile diseases, Genetic testing, Genetic disorder diagnosis, Pediatrics, Chromosome abnormalities, Genetic mutation
Abstract: The article describes two pediatric cases of macrocephaly and developmental delay. The first case involves a 4-year-old boy who was presented with multiple subcutaneous masses but was found to have neither a family history of multiple lipomas nor a history of malignancies. On the other hand, the second case is on a 3-year-old boy who had persistent macrocephaly and overgrowth. According to the author, both cases revealed a PTEN mutation consistent with Bannayan-Riley-Ruvalcaba Syndrome (BRRS). Implications for the diagnostic measures for macrocephaly are further discussed.
Database: Education Research Complete
Description
Abstract:The article describes two pediatric cases of macrocephaly and developmental delay. The first case involves a 4-year-old boy who was presented with multiple subcutaneous masses but was found to have neither a family history of multiple lipomas nor a history of malignancies. On the other hand, the second case is on a 3-year-old boy who had persistent macrocephaly and overgrowth. According to the author, both cases revealed a PTEN mutation consistent with Bannayan-Riley-Ruvalcaba Syndrome (BRRS). Implications for the diagnostic measures for macrocephaly are further discussed.
ISSN:00099228
DOI:10.1177/0009922808321679