Goldenhar syndrome associated with growth hormone deficiency


Yusufoǧlu A., Çetinkaya E., CEYLANER S., AYCAN Z., Kibar E., Ekici F., ...More

Genetic Counseling, vol.19, no.2, pp.173-176, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 19 Issue: 2
  • Publication Date: 2008
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.173-176
  • Keywords: Goldenhar syndrome, Growth hormone deficiency
  • Lokman Hekim University Affiliated: No

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.