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Original Paper

Analysis of Intracranial Volume in Apert Syndrome Genotypes

Anderson P.J.a · Netherway D.J.a,b · Abbott A.H.a · Cox T.b · Roscioli T.c · David D.J.a,b

Author affiliations

aAustralian Craniofacial Unit, Women’s and Children’s Hospital, and bUniversity of Adelaide, Adelaide, and cSouth Eastern Area Laboratory Service, Sydney, Australia

Related Articles for ""

Pediatr Neurosurg 2004;40:161–164

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: March 18, 2004
Accepted: July 06, 2004
Published online: December 15, 2004
Issue release date: July – August

Number of Print Pages: 4
Number of Figures: 3
Number of Tables: 0

ISSN: 1016-2291 (Print)
eISSN: 1423-0305 (Online)

For additional information: http://www.karger.com/PNE

Abstract

Objective: Apert syndrome is caused by a mutation of the fibroblastic growth factor type 2 gene and in nearly all of the cases where the mutation has been identified it occurs in one of two adjacent sites of the gene, either position 252 or position 253. There is currently uncertainty whether a worse neurosurgical outcome occurs in association with a particular genotype. We investigated whether there were clinically subtle (but relevant) morphological differences in the craniofacial skeleton, which would result in differences in the intracranial volume, which might account for apparent differences in surgical outcome. Method: Three-dimensional CT scans of pre-operative Apert syndrome whose genotype had been identified had the intracranial volume measured using the Cavalieri estimator with correction for partial voluming effects. The values were compared to age and sex normals and then the two genotypes compared. Results: Intracranial volumes were measured for 22 cases, 16 with the 252 mutation and 6 with the 253 mutation. Conclusions: All cases except two had greater than their sex- and age-adjusted mean normal intracranial volumes. For the 252 and 253 genotypes there were no discernible differences in intracranial volumes between the two genotypes.

© 2004 S. Karger AG, Basel


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: March 18, 2004
Accepted: July 06, 2004
Published online: December 15, 2004
Issue release date: July – August

Number of Print Pages: 4
Number of Figures: 3
Number of Tables: 0

ISSN: 1016-2291 (Print)
eISSN: 1423-0305 (Online)

For additional information: http://www.karger.com/PNE


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