Literature DB >> 7117707

Unexpected death of children with achondroplasia after the perinatal period.

J D Bland, J L Emery.   

Abstract

This report describes six cases of achondroplasia, four of whom died unexpectedly in early childhood. Clinical details and pathological findings are reported. Unexpected death seems to be a feature of children with achondroplasia, and appears to be related to brain-stem lesions secondary to deformities of the foramen magnum and posterior fossa.

Entities:  

Mesh:

Year:  1982        PMID: 7117707     DOI: 10.1111/j.1469-8749.1982.tb13654.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  5 in total

1.  Mortality in achondroplasia.

Authors:  J T Hecht; C A Francomano; W A Horton; J F Annegers
Journal:  Am J Hum Genet       Date:  1987-09       Impact factor: 11.025

2.  New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia.

Authors:  Massimiliano Rossi; Federico Di Rocco; Sara Cabet; Alexandru Szathmari; Carmine Mottolese; Patricia Franco; Laurent Guibaud
Journal:  Childs Nerv Syst       Date:  2022-05-03       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

4.  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

5.  The (extended) achondroplasia foramen magnum score has good observer reliability.

Authors:  Nathan Jenko; Daniel J A Connolly; Ashok Raghavan; James A Fernandes; Shungu Ushewokunze; Heather E Elphick; Paul Arundel; Utku Alhun; Amaka C Offiah
Journal:  Pediatr Radiol       Date:  2022-04-09
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.