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Ucar B., Kilic Z., DİNLEYİCİ E. Ç., Yakut A., Dogruel N.
CLINICAL DYSMORPHOLOGY, vol.13, no.1, pp.53-55, 2004 (SCI-Expanded)
Article / Article
Science Citation Index Expanded (SCI-EXPANDED), Scopus
cardiac malformations, Seckel syndrome, atrioventricular canal defect
Eskisehir Osmangazi University Affiliated:
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.