Severe infantile Marfan syndrome versus neonatal Marfan syndrome

American Journal of Medical Genetics

Volumn 139 A, Issue 1, 2005, Pages 1-

  Hennekam, Raoul C M ^a,b,c  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARACHNODACTYLY; CAMPTODACTYLY; CONGESTIVE HEART FAILURE; ECTOPIA LENTIS; EDITORIAL; EMPHYSEMA; HUMAN; INFANT; INFANT DISEASE; JOINT CONTRACTURE; MARFAN SYNDROME; MITRAL VALVE REGURGITATION; NEWBORN; NEWBORN DISEASE; ONSET AGE; PRIORITY JOURNAL; PROGNOSIS; SYNDROME DELINEATION; TRICUSPID VALVE REGURGITATION;

AGE FACTORS; HUMANS; INFANT; INFANT, NEWBORN; MARFAN SYNDROME;

EID: 27444439829     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30979     Document Type: Editorial

References (4)

1. Booms P, Cisler J, Mathews KE, Godfrey M, Tiecke F, Kaufmann UC, Vetter U, Hagemeier C, Robinson PN. 1999. Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome. Clin Genet 55:110-117.
2. Geva T, Sanders SP, Diogenes MS, Rockenmacher S, Van Praagh R. 1990. Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome. Am J Cardiol 65:1230-1237.
3. 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. Pediatrics 86:888-895.
4. Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C. 2004. Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature. Eur J Pediatr 163:33-37.