Aortic root dilation in apparent Lujan-Fryns syndrome

American Journal of Medical Genetics

Volumn 86, Issue 5, 1999, Pages 405-409

  Wittine, Lara M ^a   Josephson, Kevin D ^b   Williams, Marc S ^a  

^a GUNDERSEN LUTHERAN MEDICAL CENTER   (United States)

^b La Crosse Regional Genetics   (United States)

Author keywords

Aortic root dilation; Connective tissue disorder; Lujan Fryns; Ventricular septal defect

Indexed keywords

ADULT; AORTA ROOT; ARTERY DILATATION; ARTICLE; CASE REPORT; COGNITIVE DEFECT; CONNECTIVE TISSUE DISEASE; DIFFERENTIAL DIAGNOSIS; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MALE; MARFAN SYNDROME; PRIORITY JOURNAL; SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; AORTIC VALVE; DIAGNOSIS, DIFFERENTIAL; DILATATION, PATHOLOGIC; FACE; HEART SEPTAL DEFECTS, VENTRICULAR; HUMANS; MALE; MARFAN SYNDROME; PEDIGREE; SYNDROME;

EID: 0033615570     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991029)86:5<405::AID-AJMG2>3.0.CO;2-1     Document Type: Article

References (12)

1. De Hert M, Steemans D, Theys P, Fryns JP, Peuskens J. 1996. Lujan-Fryns syndrome in the differential diagnosis of schizophrenia. Am J Med Genet 67:212-214.
2. Dotti MT, Malandrini A, Bartolini S, Fabrizi GM, Federico A. 1993. Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression. Brain Dev 15:291-294.
3. Fryns JP. 1991. X-linked mental retardation with marfanoid habitus. Am J Med Genet 38:233.
4. Fryns JP, Buttiens M. 1987. X-linked mental retardation with marfanoid habitus. Am J Med Genet 28:267-274.
5. Fryns JP, Van den Berghe H. 1992. X-linked mental retardation with marfanoid habitus: a changing phenotype with age? Genet Couns 2: 241-244.
6. Gurrieri F, Neri G. 1991. A girl with the Lujan-Fryns syndrome. Am J Med Genet 38:290-291.
7. Lacombe D, Bonneau D, Verloes A, Couet D, Koulisher L, Battin J. 1993. Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review. Genet Couns 4:193-198.
8. Lalatta F, Livini E, Selicorni A, Briscioli V, Vita A, Lugo F, Zollino M, Gurrieri F, Neri G. 1991. X-linked mental retardation with marfanoid habitus: first report of four Italian patients. Am J Med Genet 38:228-232.
9. Lujan JE, Carlin ME, Lubs HA. 1984. A form of X-linked mental retardation with marfanoid habitus. Am J Med Genet 17:311-322.
10. Morse RP, Rockenmacher S, Pyeritz RE, Sanders SP, Bieber FR, Lin A, MacLeod P, Hall B, Graham JM. 1990. Diagnosis and management of infantile Marfan syndrome. Pediatr 86:888-895.
11. Rivera H, Ramírez-Dueñas ML, García-Ochoa C. 1992. Lujan syndrome in a Mexican boy. Am J Med Genet 43:626-627.
12. Spaepen A, Hellemans H, Fryns JP. 1994. X-linked mental retardation with marfanoid habitus:the eye-catching psychiatric disorders. Am J Med Genet 51:611.