Seckel syndrome associated with atrioventricular canal defect: a case report
CLINICAL DYSMORPHOLOGY, cilt.13, sa.1, ss.53-55, 2004 (SCI-Expanded, Scopus)
- 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.