Literature DB >> 831961

Foramen magnum impaction in a case of acro-osteolysis.

B Williams.   

Abstract

A case of a rare, non-familial, generalized, congenital, osseous dysplasia is described with features which have previously been described under the name 'acro-osteolysis'. Basilar invagination followed defective bone formation in the skull and this produced occipital headache and progressive neurological deterioration with involvement of the lower cranial nerves and cerebellar function. Hydrocephalus and valvular impaction of the cerebellum in the foramen magnum were demonstrated. Partial relief was obtained by foramen magnum decompression; death supervened from infection and respiratory inadequacy at the age of 20.

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Year:  1977        PMID: 831961     DOI: 10.1002/bjs.1800640117

Source DB:  PubMed          Journal:  Br J Surg        ISSN: 0007-1323            Impact factor:   6.939


  7 in total

Review 1.  Specific entities affecting the craniocervical region: osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management of basilar impression.

Authors:  Arnold H Menezes
Journal:  Childs Nerv Syst       Date:  2008-04-10       Impact factor: 1.475

2.  Hydrocephalus in Hajdu-Cheney syndrome.

Authors:  L C Adès; L L Morris; E A Haan
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

3.  Syringohydromyelia in Hajdu-Cheney syndrome.

Authors:  G Nishimura; K Aoki; N Haga; T Hasegawa
Journal:  Pediatr Radiol       Date:  1996

4.  Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome.

Authors:  L Swan; G Gole; V Sabesan; J Cardinal; D Coman
Journal:  Case Rep Genet       Date:  2018-10-21

5.  Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.

Authors:  Jonathan Cortés-Martín; Lourdes Díaz-Rodríguez; Beatriz Piqueras-Sola; Juan Carlos Sánchez-García; Antonio Liñán González; Raquel Rodríguez-Blanque
Journal:  J Clin Med       Date:  2022-09-02       Impact factor: 4.964

6.  Nursing Care Plan for Patients with Hajdu-Cheney Syndrome.

Authors:  Jonathan Cortés-Martín; Lourdes Díaz-Rodríguez; Beatriz Piqueras-Sola; Juan Carlos Sánchez-García; María José Menor-Rodríguez; Raquel Rodríguez-Blanque
Journal:  Int J Environ Res Public Health       Date:  2022-06-18       Impact factor: 4.614

7.  Hajdu-Cheney Syndrome: Report of a Case in Spain.

Authors:  Jonathan Cortés-Martín; Juan Carlos Sánchez-García; Beatriz Piqueras-Sola; Raquel Rodríguez-Blanque; María Isabel Tovar-Gálvez; Lourdes Díaz-Rodríguez
Journal:  Diagnostics (Basel)       Date:  2022-02-23
  7 in total

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