Document Detail


Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype.
MedLine Citation:
PMID:  15167238     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
In a retrospective study, the characteristics of a group of patients (n = 9) with a postnatally expressed Crouzon syndrome were described. Although they do not always display the physical signs of craniosynostosis, such patients are highly at risk of developing symptoms secondary to multiple suture synostosis. By reviewing the hospital files, radiographs, and three-dimensional computed tomography scans of these patients, it was possible to describe the pattern of suture obliteration chronologically. Furthermore, certain phenotypic signs and symptoms such as skull shape and development of digital impressions, a bulge at the bregma, and intracranial hypertension were inventoried as well as patients' genotypes. Interestingly, ossification started at the lambdoid sutures in at least four patients and most likely in three additional ones. The coronal sutures were the last to ossify in at least three of the patients. Various skull shapes were encountered. Furthermore, all nine patients developed digital impressions, starting occipitally in eight of them. Seven patients developed a bulge at the bregma, and four of them exhibited intracranial hypertension. The genotype varied in our patients. To recognize patients with postnatal Crouzon syndrome as soon as possible, special attention must be paid to 1) occipital development of digital impressions and/or ossification of sutures, 2) development of a prominent bregma, 3) development of intracranial hypertension, and/or 4) progressive characteristic "crouzonoid" features. Such patients can be considered as representing a subtype of Crouzon syndrome. To prevent or treat intracranial hypertension and/or loss of vision, surgical intervention should be performed at the onset of progressive craniosynostosis between 1 and 2 years of age.
Authors:
Mirjam F Hoefkens; Christl Vermeij-Keers; J Michiel Vaandrager
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of craniofacial surgery     Volume:  15     ISSN:  1049-2275     ISO Abbreviation:  J Craniofac Surg     Publication Date:  2004 Mar 
Date Detail:
Created Date:  2004-05-28     Completed Date:  2004-06-14     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9010410     Medline TA:  J Craniofac Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  233-40; discussion 241-2     Citation Subset:  D    
Affiliation:
Research Unit of the Department of Plastic and Reconstructive Surgery, Craniofacial Center, Sophia Children's Hospital, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
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MeSH Terms
Descriptor/Qualifier:
Craniofacial Dysostosis / classification*,  complications,  genetics,  pathology*
Craniosynostoses / etiology*,  pathology*,  physiopathology,  surgery
Disease Progression
Exophthalmos / etiology
Female
Fibroblast Growth Factor 2 / genetics
Humans
Infant
Intracranial Hypertension / etiology
Male
Mutation
Phenotype
Retrospective Studies
Chemical
Reg. No./Substance:
103107-01-3/Fibroblast Growth Factor 2

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