Seckel syndrome associated with atrioventricular canal defect: A case report

Clinical Dysmorphology

Volumn 13, Issue 1, 2004, Pages 53-55

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

^a ESKISEHIR OSMANGAZI UNIVERSITY   (Turkey)

Author keywords

Atrioventricular canal defect; Cardiac malformations; Seckel syndrome

Indexed keywords

ADOLESCENT; ANAMNESIS; ARTICLE; ATRIOVENTRICULAR CANAL; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HEART LEFT RIGHT SHUNT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; MITRAL VALVE REGURGITATION; NOSE MALFORMATION; PRIORITY JOURNAL; PULMONARY HYPERTENSION; SECKEL SYNDROME; TRICUSPID VALVE DISEASE; CONGENITAL MALFORMATION; FACE; FACIES; HAND MALFORMATION; HEART SEPTUM DEFECT; LETTER; MULTIPLE MALFORMATION SYNDROME; RECESSIVE GENE; SYNDROME;

ABNORMALITIES, MULTIPLE; ADOLESCENT; FACE; FACIES; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HEART SEPTAL DEFECTS, ATRIAL; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; MALE; MENTAL RETARDATION; MICROCEPHALY; SYNDROME;

EID: 2442676860     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200401000-00017     Document Type: Article

References (4)

1. Fukuda S, Morishita Y, Hashiguchi M, Taira A (1991). Seckel's syndrome associated with atrial septal defect: a case report and review of the literature in Japan. Kyobu Geka 44:411-413.
2. Howanietz H, Frisch H, Jedlicka-Kohler I, Steger H (1989). Seckel dwarfism based on a personel case. Klin Padiatr 201:134-141.
3. Rappen U, von Brenndorf AI (1993). Cardiac symptoms in 2 patients with Seckel syndrome. Monatsschr Kinderheilkd 141:584-586.
4. O'Drsicoll M, Ruiz-Perez VL, Woods CG, Jeggo PA, Goodship JA (2003). A splicing mutation affecting expression of ataxia-telengiectasia and Rad3-related protein (ATR) results in Seckel syndrome. Nat Genet 33:497-501.