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

被引：4

作者：

Derbent, Murat ^{[1
]}

Anuk, Deniz ^{[1
]}

Tarcan, Aylin ^{[1
]}

Varan, Birguel ^{[2
]}

Gurakan, Berkan ^{[1
]}

Tokel, Kursad ^{[2
]}

机构：

[1] Baskent Univ, Fac Med, Dept Pediat, TR-06490 Ankara, Turkey

[2] Baskent Univ, Fac Med, Dept Pediat Cardiol, TR-06490 Ankara, Turkey

来源：

CLINICAL DYSMORPHOLOGY | 2008年 / 17卷 / 02期

关键词：

FBN1; fibrillin; functional; Marfan syndrome; pulmonary atresia;

D O I：

10.1097/MCD.0b013e328248b6b0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Neonatal Marfan syndrome is a severe form of the syndrome mostly caused by de-novo mutations in the fibrillin-1 gene. We report a newborn with neonatal Marfan syndrome and functional pulmonary atresia who (lied from congestive heart failure on postnatal day 22 despite treatment. He had a mutation in exon 29 of the fibrillin-1 gene at position c.3602G>A. Functional pulmonary atresia may be a life-threatening cardiovascular manifestation of neonatal Marfan syndrome.

引用

页码：127 / 128

页数：2

共 45 条

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Brenner, R
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M. Weidenbach
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T. Rantamäki
D.A. Redel
Pediatric Cardiology, 1999, 20 : 382 - 385
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EUROPEAN JOURNAL OF PEDIATRICS, 2004, 163 (01) : 33 - 37
[5] 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
Nicole Revencu
Geneviève Quenum
Thierry Detaille
Gaston Verellen
Anne De Paepe
Christine Verellen-Dumoulin
European Journal of Pediatrics, 2004, 163 : 33 - 37
[6] A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype.
Callea, Michele
Willoughby, Cohn Eric
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Giovannoni, Isabelle
Vinciguerra, Agatino
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Benettoni, Alessandra
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Bellacchio, Emanuele
INVESTIGACION CLINICA, 2017, 58 (01): : 70 - 78
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Zechner, Ulrich
Bartsch, Oliver
Iurian, Sorin Ioan
EUROPEAN JOURNAL OF PEDIATRICS, 2017, 176 (11) : 1496 - 1497
[8] Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome
YOUNG-HWA SONG
GU-HWAN KIM
HAN-WOOK YOO
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Journal of Genetics, 2012, 91 : 233 - 235
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Yoo, Han-Wook
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JOURNAL OF GENETICS, 2012, 91 (02) : 233 - 235
[10] Severe neonatal Marfan syndrome with a novel mutation in the intron of the FBN1 gene A case report
Yoon, Su Hyun
Kong, Younghwa
MEDICINE, 2021, 100 (06) : E24301

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

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