Seckel syndrome associated with atrioventricular canal... : Clinical Dysmorphology (original) (raw)

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Seckel syndrome associated with atrioventricular canal defect: a case report

Ucar, Birsen; Kilic, Zübeyir; Dinleyici, Ener Cagri; Yakut, Ayten; Dogruel, Nesrin

Department of Pediatrics, Faculty of Medicine, University of Osmangazi, Eskişehir, Turkey

Correspondence and requests for reprints to Ener Cagri Dinleyici, MD, Department of Pediatrics, Faculty of Medicine, University of Osmangazi, TR-26480, Eskişehir, Turkey.

Tel: +90 222 2290064; fax: +90 222 2393772;

e-mail: [email protected]

Received 23 April 2003 Accepted 6 October 2003

Abstract

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.