Premium
Achondroplasia with synostosis of multiple sutures
Author(s) -
Georgoulis George,
Alexiou George,
Prodromou Neofytos
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33744
Subject(s) - achondroplasia , craniosynostosis , synostosis , medicine , craniosynostoses , plagiocephaly , surgery
We report for the second time on a case of achondroplasia with synostosis of multiple sutures. The most common mutation for achondroplasia ( FGFR3 Gly380Arg, resulting in 1138G>A) was identified. Imaging studies disclosed complex craniosynostosis and neurosurgical intervention was carried out, particularly for posterior plagiocephaly. © 2011 Wiley‐Liss, Inc.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom