Literature DB >> 11343336

Absence of correlation between infantile hypotonia and foramen magnum size in achondroplasia.

K K Reynolds1, P Modaff, R M Pauli.   

Abstract

Virtually all infants with achondroplasia exhibit variably severe hypotonia in infancy. This hypotonia contributes to delays in motor development and risks for sudden death. Some have proposed that this hypotonia is a direct result of impaired function of long tracts of the spinal cord, secondary to the intrinsic narrowing of the foramen magnum, which also is present in variable severity in all children with achondroplasia. We postulated that if foraminal constriction causes infantile hypotonia, then there should be a strongly positive correlation between foraminal size and severity of hypotonia. Therefore, clinical and computed tomographic data in 71 infants were retrospectively reviewed. We found no correlation. These results suggest that there is no direct relationship and foraminal size does not affect severity of hypotonia. Other potential explanations for this infantile hypotonia are considered. Copyright 2001 Wiley-Liss, Inc.

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Year:  2001        PMID: 11343336     DOI: 10.1002/ajmg.1307

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  A morphometric anatomical and comparative study of the foramen magnum region in a Greek population.

Authors:  K Natsis; M Piagkou; G Skotsimara; G Piagkos; P Skandalakis
Journal:  Surg Radiol Anat       Date:  2013-04-26       Impact factor: 1.246

2.  The foramen magnum in scaphocephaly.

Authors:  Tymon Skadorwa; Olga Wierzbieniec
Journal:  Childs Nerv Syst       Date:  2022-08-05       Impact factor: 1.532

Review 3.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

Review 4.  Optimal management of complications associated with achondroplasia.

Authors:  Penny J Ireland; Verity Pacey; Andreas Zankl; Priya Edwards; Leanne M Johnston; Ravi Savarirayan
Journal:  Appl Clin Genet       Date:  2014-06-24
  4 in total

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