Document Detail

Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.
MedLine Citation:
PMID:  7887429     Owner:  NLM     Status:  MEDLINE    
Achondroplasia, the most common heritable skeletal dysplasia, may result in abnormality at the craniocervical junction, which is a potentially lethal problem in a subset of young infants with this disorder. We evaluated and followed an unbiased and unselected consecutive series of infants with achondroplasia, to better document the occurrence, frequency, and clinical presentation of craniocervical abnormalities. Of 53 prospectively ascertained infants, 5 were judged to have sufficient craniocervical junction compression to require surgical decompression. Intraoperative observation always showed marked abnormality of the cervical spinal cord, and all operated-on children showed marked improvement of neurological function. The most frequent clinical abnormalities within this subset were those expected for high cervical myelopathy. The best predictors of need for suboccipital decompression included lower-limb hyperreflexia or clonus, on examination; central hypopnea demonstrated by polysomnography; and foramen magnum measures below the means for children with achondroplasia. Infants with achondroplasia are at risk for potentially lethal sequelae of craniocervical junction abnormalities; selective intervention can be life and health saving, but individuals at high risk will be identified only if all affected infants undergo comprehensive assessment in infancy.
R M Pauli; V K Horton; L P Glinski; C A Reiser
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of human genetics     Volume:  56     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-04-13     Completed Date:  1995-04-13     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  732-44     Citation Subset:  IM    
Department of Pediatrics, University of Wisconsin, Madison 53705.
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MeSH Terms
Achondroplasia / complications*
Child, Preschool
Medulla Oblongata / physiopathology*
Occipital Lobe / physiopathology
Prospective Studies
Risk Assessment
Spinal Cord Compression / etiology*,  physiopathology,  surgery

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