Seckel syndrome associated with atrioventricular canal defect: a case report

Ucar B., Kilic Z., DİNLEYİCİ E. Ç., Yakut A., Dogruel N.

CLINICAL DYSMORPHOLOGY, cilt.13, sa.1, ss.53-55, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 1
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1097/00019605-200401000-00017
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.53-55
  • Anahtar Kelimeler: cardiac malformations, Seckel syndrome, atrioventricular canal defect
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose. We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance.