Analysis of intracranial volume in Apert syndrome genotypes

Pediatric Neurosurgery

Volumn 40, Issue 4, 2004, Pages 161-164

  Anderson, Peter J ^a   Netherway, David J ^a,b   Abbott, Amanda H ^a   Cox, Timothy ^b   Roscioli, Tony ^c   David, David J ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c New South Wales Government   (Australia)

Author keywords

Apert syndrome; Craniosynostosis; Genotype; Tomography

Indexed keywords

ACROCEPHALOSYNDACTYLY; ARTICLE; BRAIN SIZE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MORPHOLOGY; DEVICE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MALE; MORPHOLOGY; PRIORITY JOURNAL; TREATMENT OUTCOME;

ACROCEPHALOSYNDACTYLIA; BRAIN; CEPHALOMETRY; EXONS; FEMALE; FIBROBLAST GROWTH FACTOR 2; GENOTYPE; HUMANS; INFANT; MALE;

EID: 11444263019     PISSN: 10162291     EISSN: None     Source Type: Journal    
DOI: 10.1159/000081933     Document Type: Article

References (10)

1. Cohen MM Jr: Apert syndrome; in Cohen MM Jr, McLean RE (eds): Craniosynostosis: Diagnosis, Evaluation and Management, ed 2. New York, Oxford University Press, 2000, pp 316-353.
2. Wilkie AOM, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, Malcolm S, Winter RM, Reardon W: Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-172.
3. Slaney SF, Oldridge M, Hurst JA, Morris-Kay GM, Hall CM, Poole MD, Wilkie AOM: Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996;58:923-932.
4. Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM Jr, Jabs EW: Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet 1995;57:321-328.
5. Lajeunie E, Cameron R, El Ghouzzi V, de Parseval N, Journeau P, Gonzales M, Delezoide AL, Bonaventure J, Le Merrer M, Renier D: Clinical variability in patients with Apert syndrome. J Neurosurg 1999;90:443-447.
6. von Gernet S, Golla A, Ehrenfels Y, Schuffenhauer S, Fairley JD: Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clin Genet 2000;57:137-139.
7. Oldridge M, Lunt PW, Zackai EH, McDonald-McGinn DM, Muencke M, Maloney DM, Twigg SF, Heath JK, Howard TD, Hoganson G, Gagnon DM, Jabs EW, Wilkie AOM: Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Mol Genet 1997;6:137-143.
8. Abbot A, Netherway DJ, Niemann D, Clark B, Yamamoto M, Cole JJ, Hanieh A, Moore MH, David DJ: CT determined intracranial volume for a normal population. J Craniofac Surg 2000;11:211-223.
9. Netherway DJ, Abbott AH, Cole JJ, Moore MH, Abbott JR, David DJ: Intracranial volume of patients with craniosynostosis. Transactions 9th Int Congr on Cleft Palate and Craniofacial Anomalies, Goteburg, 2001, pp 591-602.
10. Posnick JC, Armstrong D, Bite U: Crouzon and Apert syndromes: Intracranial volume measurements before and after cranio-orbital reshaping in childhood. Plast Reconstr Surg 1995;96:539-548.