Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351CFGFR2 mutation

被引：24

|

作者：

Gonzales, M ^{[1
]}

Heuertz, S ^{[1
]}

Martinovic, J ^{[1
]}

Delahaye, S ^{[1
]}

Bazin, A ^{[1
]}

Loget, P ^{[1
]}

Pasquier, L ^{[1
]}

Le Merrer, M ^{[1
]}

Bonaventure, J ^{[1
]}

机构：

[1] Tour Lavoisier Hop Necker, INSERM, U393, F-75743 Paris, France

来源：

CLINICAL GENETICS | 2005年 / 68卷 / 02期

关键词：

D O I：

10.1111/j.1399-0004.2005.00477.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

收藏

页码：179 / 181

页数：3

相关论文

共 4 条

[1] Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290CFGFR2 mutation
Chen, C. -P.
Lin, S. -P.
Su, Y. -N.
Chen, S. -C.
Tsai, F. -J.
Wang, W.
GENETIC COUNSELING, 2008, 19 (02): : 165 - 172
[2] A Delayed Finding of a Tracheal Cartilaginous Sleeve in a Patient with Pfeiffer Syndrome Type 2 and a Complex Airway History
Colomb, Camille
Hippard, Helena Karlberg
Canadas, Karina
Watcha, Mehernoor
A & A CASE REPORTS, 2015, 5 (03) : 36 - 39
[3] Craniosynostosis with tracheal sleeve:: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found
Zackai, EH
McDonald-McGinn, DM
Stolle, C
Huff, DS
CLINICAL DYSMORPHOLOGY, 2003, 12 (03) : 209 - 209
[4] Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene
Mathijssen, IMJ
Vaandrager, JM
Hoogeboom, AJM
Hesseling-Janssen, ALW
van den Ouweland, AMW
JOURNAL OF CRANIOFACIAL SURGERY, 1998, 9 (03) : 207 - 209