Seckel syndrome associated with atrioventricular canal defect: a case report

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 s...

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Veröffentlicht in:	Clinical dysmorphology 2004-01, Vol.13 (1), p.53-55
Hauptverfasser:	Ucar, Birsen, Kilic, Zübeyir, Dinleyici, Ener Cagri, Yakut, Ayten, Dogruel, Nesrin
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnosis Adolescent Face - abnormalities Facies Genes, Recessive Hand Deformities, Congenital - diagnosis Heart Septal Defects, Atrial - diagnosis Heart Septal Defects, Ventricular - diagnosis Humans Intellectual Disability - diagnosis Male Microcephaly - diagnosis Syndrome
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Beschreibung
Zusammenfassung:	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.
ISSN:	0962-8827
DOI:	10.1097/00019605-200401000-00017