Literature DB >> 3415202

Neurological basis of respiratory complications in achondroplasia.

F W Nelson1, J T Hecht, W A Horton, I J Butler, W D Goldie, M Miner.   

Abstract

Evaluation of 32 individuals with achondroplasia revealed that 28% had a history of apnea and 22% had respiratory abnormalities on polysomnography. In those patients requiring posterior fossa decompressive surgery, improvement was noted in follow-up polysomnograms. Multimodality studies suggested that brainstem compression was common in achondroplasia and could account in part for the abnormal respiratory function in this disorder, including obstructive apnea, central apnea, and hypoxemia.

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Year:  1988        PMID: 3415202     DOI: 10.1002/ana.410240117

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  9 in total

1.  Surgical treatment for cervicomedullary compression among infants with achondroplasia.

Authors:  Nir Shimony; Liat Ben-Sira; Yakov Sivan; Shlomi Constantini; Jonathan Roth
Journal:  Childs Nerv Syst       Date:  2015-02-17       Impact factor: 1.475

2.  A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.

Authors:  Y Wang; M K Spatz; K Kannan; H Hayk; A Avivi; M Gorivodsky; M Pines; A Yayon; P Lonai; D Givol
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-13       Impact factor: 11.205

Review 3.  Sleep disordered breathing in children with achondroplasia.

Authors:  Marco Zaffanello; Gaetano Cantalupo; Giorgio Piacentini; Emma Gasperi; Luana Nosetti; Paolo Cavarzere; Diego Alberto Ramaroli; Aliza Mittal; Franco Antoniazzi
Journal:  World J Pediatr       Date:  2016-10-15       Impact factor: 2.764

4.  Distinct patterns of respiratory difficulty in young children with achondroplasia: a clinical, sleep, and lung function study.

Authors:  R C Tasker; I Dundas; A Laverty; M Fletcher; R Lane; J Stocks
Journal:  Arch Dis Child       Date:  1998-08       Impact factor: 3.791

5.  Breathing abnormalities in sleep in achondroplasia.

Authors:  K A Waters; F Everett; D Sillence; E Fagan; C E Sullivan
Journal:  Arch Dis Child       Date:  1993-08       Impact factor: 3.791

6.  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

Review 7.  Neurological Manifestations of Achondroplasia.

Authors:  John B Bodensteiner
Journal:  Curr Neurol Neurosci Rep       Date:  2019-11-28       Impact factor: 5.081

8.  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

9.  Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.

Authors:  Tong Yi; Hairui Sun; Yuwei Fu; Xiaoyan Hao; Lin Sun; Ye Zhang; Jiancheng Han; Xiaoyan Gu; Xiaowei Liu; Yong Guo; Xin Wang; Xiaoxue Zhou; Siyao Zhang; Qi Yang; Jiaqi Fan; Yihua He
Journal:  Front Genet       Date:  2022-04-19       Impact factor: 4.772

  9 in total

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