Literature DB >> 2915283

Odontoid hypoplasia with vertebral cervical subluxation and ventriculomegaly in metatropic dysplasia.

M Shohat1, R Lachman, D L Rimoin.   

Abstract

Our experience with 12 patients with metatropic dysplasia has demonstrated two important and treatable complications: odontoid hypoplasia with subluxation of the first and second cervical vertebrae, and ventriculomegaly. Hypoplasia and lack of ossification of the odontoid process were noted in all cases. Subluxation of these two vertebrae was demonstrated in all six patients who had lateral flexion-extension radiographs; three had subluxation even in a neutral position, and sudden odontoid dislocation developed in another after a simple fall. Four individuals have had surgical fusion of the cervical vertebrae; one child died suddenly, 1 week before scheduled surgery. In the three patients in whom computed tomography scans of the head were obtained, enlarged ventricles were found; one had symptomatic increased intracranial pressure and required a shunt. We recommend that odontoid hypoplasia be evaluated in all patients with metatropic dysplasia. If subluxation is proved, atlantoaxial fusion should be performed before damage to the cervical part of the spinal cord results. Serial head circumference measurements and evaluation for hydrocephalus are also recommended.

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Year:  1989        PMID: 2915283     DOI: 10.1016/s0022-3476(89)80789-9

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  5 in total

Review 1.  Imaging the craniocervical junction.

Authors:  Wendy R K Smoker; Geetika Khanna
Journal:  Childs Nerv Syst       Date:  2008-05-07       Impact factor: 1.475

2.  Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign.

Authors:  Catherine Garel; Amira Dhouib; Chiara Sileo; Valérie Cormier-Daire; Hubert Ducou le Pointe
Journal:  Pediatr Radiol       Date:  2014-03

Review 3.  The weight of the fourth dimension for the diagnosis of genetic bone disease.

Authors:  A Giedion
Journal:  Pediatr Radiol       Date:  1994

4.  Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Authors:  Deborah Krakow; Joris Vriens; Natalia Camacho; Phi Luong; Hannah Deixler; Tara L Funari; Carlos A Bacino; Mira B Irons; Ingrid A Holm; Laurie Sadler; Ericka B Okenfuss; Annelies Janssens; Thomas Voets; David L Rimoin; Ralph S Lachman; Bernd Nilius; Daniel H Cohn
Journal:  Am J Hum Genet       Date:  2009-02-19       Impact factor: 11.025

Review 5.  The Role of the Craniocervical Junction in Craniospinal Hydrodynamics and Neurodegenerative Conditions.

Authors:  Michael F Flanagan
Journal:  Neurol Res Int       Date:  2015-11-30
  5 in total

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