Literature DB >> 3816858

Foramen magnum stenosis in homozygous achondroplasia.

J T Hecht, W A Horton, I J Butler, W D Goldie, M E Miner, R Shannon, R M Pauli.   

Abstract

A 4-month-old female with homozygous achondroplasia and daytime apnea was found to have a small foramen magnum by computerized tomography. Following suboccipital craniectomy and C1-C2 laminectomy respiratory problems did not recur during a 7 month post-operative period. We suggest that the respiratory problems in homozygous achondroplasia may be due to brainstem compression from an abnormally small foramen magnum.

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Year:  1986        PMID： 3816858     DOI： 10.1007/bf02429060

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  11 in total

1.  Fetal breathing.

Authors:  K Boddy; G S Dawes
Journal:  Br Med Bull       Date:  1975-01       Impact factor: 4.291

2.  Computerized tomography of the foramen magnum: achondroplastic values compared to normal standards.

Authors:  J T Hecht; F W Nelson; I J Butler; W A Horton; C I Scott; E R Wassman; C M Mehringer; D L Rimoin; R M Pauli
Journal:  Am J Med Genet       Date:  1985-02

3.  An embedding method for histochemical studies of undecalcified skeletal growth plate.

Authors:  W A Horton; N Dockery; D Sillence; D L Rimoin
Journal:  Stain Technol       Date:  1980-01

4.  Neonatal death dwarfism.

Authors:  K Kozlowski; J Masel; L Morris; J Ryan; E Collins; P Van Vliet; H Woolnough
Journal:  Australas Radiol       Date:  1977-06

5.  Apnea as the sole manifestation of cord compression in achondroplasia.

Authors:  A S Fremion; B P Garg; J Kalsbeck
Journal:  J Pediatr       Date:  1984-03       Impact factor: 4.406

6.  Homozygous achondroplasia with survival beyond infancy.

Authors:  R M Pauli; M M Conroy; L O Langer; D G McLone; T Naidich; R Franciosi; I M Ratner; S C Copps
Journal:  Am J Med Genet       Date:  1983-12

Review 7.  Presumed homozygous achondroplasia. A review and report of a further case.

Authors:  K Aterman; J P Welch; P G Taylor
Journal:  Pathol Res Pract       Date:  1983-08       Impact factor: 3.250

8.  Respiratory complications of achondroplasia.

Authors:  D C Stokes; J A Phillips; C O Leonard; J P Dorst; S E Kopits; J E Trojak; D L Brown
Journal:  J Pediatr       Date:  1983-04       Impact factor: 4.406

9.  Upper cervical myelopathy in achondroplasia.

Authors:  S S Yang; D P Corbett; A J Brough; K P Heidelberger; J Bernstein
Journal:  Am J Clin Pathol       Date:  1977-07       Impact factor: 2.493

10.  Apnea and sudden unexpected death in infants with achondroplasia.

Authors:  R M Pauli; C I Scott; E R Wassman; E F Gilbert; L A Leavitt; J Ver Hoeve; J G Hall; M W Partington; K L Jones; A Sommer
Journal:  J Pediatr       Date:  1984-03       Impact factor: 4.406
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  2 in total

1.  Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Authors:  G A Bellus; T W Hefferon; R I Ortiz de Luna; J T Hecht; W A Horton; M Machado; I Kaitila; I McIntosh; C A Francomano
Journal:  Am J Hum Genet       Date:  1995-02       Impact factor: 11.025

2.  Prospective assessment of risks for cervicomedullary-junction compression in infants with achondroplasia.

Authors:  R M Pauli; V K Horton; L P Glinski; C A Reiser
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025
  2 in total

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