LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report

Cetinkaya E., Gunal N., Sonmez N., AYCAN Z., Vidinlisan S., Kahramanyol O., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.46, sa.4, ss.373-376, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 46 Sayı: 4
  • Basım Tarihi: 2004
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.373-376
  • Anahtar Kelimeler: LEOPARD syndrome, lentiginosis, hypertrophic cardiomyopathy, familial horseshoe kidney, GENERALIZED LENTIGO, LENTIGINOSIS, ABNORMALITIES
  • Ankara Üniversitesi Adresli: Hayır

Özet

The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities. Although it is not cited, hypertrophic cardiomyopathy is often associated with the disease. In this study, we present a nine-year-old boy with LEOPARD syndrome and hypertrophic obstructive cardiomyopathy.