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Am J Med Genet A. 2011 Aug;155A(8):1969-71. doi: 10.1002/ajmg.a.33744. Epub 2011 Jul 7.

Achondroplasia with synostosis of multiple sutures.

Author information

1
Department of Neurosurgery, Agia Sofia Children's Hospital, Athens, Greece. georg1geo@yahoo.com

Abstract

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.

PMID:
21739570
DOI:
10.1002/ajmg.a.33744
[Indexed for MEDLINE]

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