Goldenhar syndrome associated with growth hormone deficiency

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

Genetic Counseling, cilt.19, sa.2, ss.173-176, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 19 Sayı: 2
  • Basım Tarihi: 2008
  • Dergi Adı: Genetic Counseling
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.173-176
  • Anahtar Kelimeler: Goldenhar syndrome, Growth hormone deficiency
  • Lokman Hekim Üniversitesi Adresli: Hayır

Özet

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.