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 suggested that he had autosomal recessive inheritance.
Ucar
Birsen
B
Kilic
Zübeyir
Z
Dinleyici
Ener Cagri
EC
Yakut
Ayten
A
Dogruel
Nesrin
N
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000175:diagnosis; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis*; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D008831:Microcephaly / Q000175:diagnosis*; D013577:Syndrome