Functional pulmonary atresia in a patient with neonatal Marfan syndrome caused by a c.3602G>A mutation in exon 29 of the FBN1 gene

Clinical Dysmorphology

Volumn 17, Issue 2, 2008, Pages 127-128

  Derbent, Murat ^a   Anuk, Deniz ^a   Tarcan, Aylin ^a   Varan, Birgül ^a   Gurakan, Berkan ^a   Tokel, Kursad ^a  

^a BASKENT UNIVERSITY   (Turkey)

Author keywords

FBN1; Fibrillin; Functional; Marfan syndrome; Pulmonary atresia

Indexed keywords

DIGOXIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DOPAMINE; ENOXIMONE; MAGNESIUM SULFATE; NITROPRUSSIDE SODIUM;

ARTICLE; CASE REPORT; CONGESTIVE HEART FAILURE; EXON; FIBRILLIN 1 GENE; GENE; GENE MUTATION; HUMAN; INFANT; MALE; MARFAN SYNDROME; PERINATAL PERIOD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; PULMONARY VALVE ATRESIA; SYMPTOM;

FATAL OUTCOME; HEART; HEART FAILURE; HUMANS; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MUTATION, MISSENSE; PULMONARY ATRESIA;

EID: 41849115997     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e328248b6b0     Document Type: Article

References (5)

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2. Andelfinger G, Shirali GS, Raunikar RA, Atz AM (2001). Functional pulmonary atresia in neonatal Marfan's syndrome: successful treatment with inhaled nitric oxide. Pediatr Cardiol 22:525-526.
3. Collod-Beroud G, Boileau C (2002). Marfan syndrome in the third Millennium. Eur J Hum Genet 10:673-681.
4. Hennekam RC (2005). Severe infantile Marfan syndrome versus neonatal Marfan syndrome. Am J Med Genet A 139:1.
5. ter Heide H, Schrander-Stumpel CT, Pals G, Delhaas T (2005). Neonatal Marfan syndrome: clinical report and review of the literature. Clin Dysmorphol 14:81-84.