Warkany Syndrome : A Rare Case Report

Warkany Syndrome : A Rare Case Report

Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8...

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Veröffentlicht in:Case reports in pediatrics 2011-01, Vol.2011 (2011), p.1-3
Hauptverfasser: Agrawal, Amit, Agrawal, Rashmi
Format: Artikel
Sprache:eng
Schlagworte:
Case Report
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Zusammenfassung:Warkany syndrome 2 or Trisomy 8 mosaicism (T8M) is a well-described, but very rare, chromosomal abnormality. The phenotype is extremely variable ranging from normal individual to severe malformation syndrome and because of this variability, this condition often goes undiagnosed. We report trisomy 8 mosaicism (T8M) in a 3-year-old boy evaluated for facial dysmorphism and delayed development.
ISSN:2090-6803
2090-6811
DOI:10.1155/2011/437101