Literature DB >> 6707788

Apnea and sudden unexpected death in infants with achondroplasia.

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.   

Abstract

Thirteen infants with achondroplasia and sudden unexpected death or unexplained apnea were discovered through nonsystematic retrospective case collection. Most were initially thought to have died from sudden infant death syndrome. However, historical and pathologic findings suggest that many of these infants had apnea and sudden unexpected death secondary to acute or chronic compression of the lower brainstem or cervical spinal cord. Infants with achondroplasia evidently are at considerably increased risk for such deaths between 1 month and 1 year of age. Appropriate intervention, given these previously unrecognized risks, may include cervical restraint, polysomnographic evaluation, and apnea monitoring.

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Year:  1984        PMID: 6707788     DOI: 10.1016/s0022-3476(84)81092-6

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


  32 in total

1.  Genetic inactivation of ERK1 and ERK2 in chondrocytes promotes bone growth and enlarges the spinal canal.

Authors:  Arjun Sebastian; Takehiko Matsushita; Aya Kawanami; Susan Mackem; Gary E Landreth; Shunichi Murakami
Journal:  J Orthop Res       Date:  2010-10-04       Impact factor: 3.494

2.  Polysomnography as an indicator for cervicomedullary decompression to treat foramen magnum stenosis in achondroplasia.

Authors:  Masakazu Sano; Nao Takahashi; Keisuke Nagasaki; Makoto Oishi; Junichi Yoshimura; Yukihiko Fujii
Journal:  Childs Nerv Syst       Date:  2018-06-29       Impact factor: 1.475

3.  Foramen magnum stenosis in homozygous achondroplasia.

Authors:  J T Hecht; W A Horton; I J Butler; W D Goldie; M E Miner; R Shannon; R M Pauli
Journal:  Eur J Pediatr       Date:  1986-12       Impact factor: 3.183

4.  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

Review 5.  Skeletal dysplasia: Respiratory management during infancy.

Authors:  Deepthi Alapati; Thomas H Shaffer
Journal:  Respir Med       Date:  2017-08-01       Impact factor: 3.415

6.  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

7.  Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.

Authors:  J E Finkelstein; K Doege; Y Yamada; R E Pyeritz; J M Graham; J B Moeschler; R M Pauli; J T Hecht; C A Francomano
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

8.  Cervicomedullary junction compression in infants with achondroplasia: when to perform neurosurgical decompression.

Authors:  D L Rimoin
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

9.  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

Review 10.  Achondroplasia: a comprehensive clinical review.

Authors:  Richard M Pauli
Journal:  Orphanet J Rare Dis       Date:  2019-01-03       Impact factor: 4.123

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