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Goldenhar syndrome associated with growth hormone deficiency.

Abstract
Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) syndrome. He also had a parachute mitral valve and growth hormone deficiency. Parachute mitral valve is a previously unreported finding while growth hormone deficiency was reported just in one case in the literature.
AuthorsA M Yusufoğlu, E Cetinkaya, S Ceylaner, Z Aycan, E Kibar, F Ekici, M Kizilgün
JournalGenetic counseling (Geneva, Switzerland) (Genet Couns) Vol. 19 Issue 2 Pg. 173-6 ( 2008) ISSN: 1015-8146 [Print] Switzerland
PMID18618991 (Publication Type: Case Reports, Journal Article, Review)
Chemical References
  • Human Growth Hormone
Topics
  • Child
  • Dwarfism, Pituitary
  • Goldenhar Syndrome
  • Human Growth Hormone (deficiency)
  • Humans
  • Male
  • Mitral Valve (abnormalities)

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