Achondroplasia with synostosis of multiple sutures
- 7 July 2011
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 155 (8) , 1969-1971
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.Keywords
This publication has 6 references indexed in Scilit:
- Prenatal diagnosis of achondroplasia presenting with multiple‐suture synostosis: a novel associationPrenatal Diagnosis, 2006
- Some chondrodysplasias with short limbs: Molecular perspectivesAmerican Journal of Medical Genetics, 2002
- Achondroplasia, hypochondroplasia and thanatophoric dysplasia: clinically related skeletal dysplasias that are also related at the molecular levelInternational Journal of Oral and Maxillofacial Surgery, 1998
- Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel associationClinical Genetics, 1998
- Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?Pediatric Radiology, 1997
- Sutural biology and the correlates of craniosynostosisAmerican Journal of Medical Genetics, 1993