View in EDS

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

Saved in:
Bibliographic Details
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
FullText Text:
  Availability: 0
Header DbId: ehh
DbLabel: Education Research Complete
An: 35816811
AccessLevel: 6
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Two Children With Macrocephaly, Developmental Delay, and PTEN Mutation.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AR" term="%22Schwab%2C+Joel+G%2E%22">Schwab, Joel G.</searchLink><relatesTo>1</relatesTo><i> jschwab@peds.bsd.uchicago.edu</i><br /><searchLink fieldCode="AR" term="%22Pena%2C+Loren%22">Pena, Loren</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Waggoner%2C+Darrel%22">Waggoner, Darrel</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Pytel%2C+Peter%22">Pytel, Peter</searchLink><relatesTo>3</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22Clinical+Pediatrics%22">Clinical Pediatrics</searchLink>. Jan2009, Vol. 48 Issue 1, p89-92. 4p.
– Name: Subject
  Label: Subject Terms
  Group: Su
  Data: *<searchLink fieldCode="DE" term="%22Developmental+delay%22">Developmental delay</searchLink><br />*<searchLink fieldCode="DE" term="%22Child+development%22">Child development</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorders+in+children%22">Genetic disorders in children</searchLink><br /><searchLink fieldCode="DE" term="%22Juvenile+diseases%22">Juvenile diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+testing%22">Genetic testing</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+disorder+diagnosis%22">Genetic disorder diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Pediatrics%22">Pediatrics</searchLink><br /><searchLink fieldCode="DE" term="%22Chromosome+abnormalities%22">Chromosome abnormalities</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: 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.
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=ehh&AN=35816811
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1177/0009922808321679
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 4
        StartPage: 89
    Subjects:
      – SubjectFull: Developmental delay
        Type: general
      – SubjectFull: Child development
        Type: general
      – SubjectFull: Genetic disorders in children
        Type: general
      – SubjectFull: Juvenile diseases
        Type: general
      – SubjectFull: Genetic testing
        Type: general
      – SubjectFull: Genetic disorder diagnosis
        Type: general
      – SubjectFull: Pediatrics
        Type: general
      – SubjectFull: Chromosome abnormalities
        Type: general
      – SubjectFull: Genetic mutation
        Type: general
    Titles:
      – TitleFull: Two Children With Macrocephaly, Developmental Delay, and PTEN Mutation.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Schwab, Joel G.
      – PersonEntity:
          Name:
            NameFull: Pena, Loren
      – PersonEntity:
          Name:
            NameFull: Waggoner, Darrel
      – PersonEntity:
          Name:
            NameFull: Pytel, Peter
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 01
              Text: Jan2009
              Type: published
              Y: 2009
          Identifiers:
            – Type: issn-print
              Value: 00099228
          Numbering:
            – Type: volume
              Value: 48
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Clinical Pediatrics
              Type: main
ResultId 1