Literature DB >> 14767713

Management of disabilities associated with achondroplasia.

Nobuhiko Haga1.   

Abstract

Achondroplasia is a skeletal dysplasia that manifests as short stature. Impairment and complications range over many disciplines including orthopedics, pediatrics, neurology, and otolaryngology. The major impairments of the extremities are short limbs, limited elbow and hip extension, and knee and leg deformities that can cause disabilities in arm function and locomotion. Hydrocephalus, a narrow foramen magnum, spinal deformity, and spinal canal stenosis can cause neurological problems, leading to disabilities in locomotion, communication, and learning. Malfunctions of the otolaryngeal system such as otitis media, upper respiratory obstruction, deafness, speech delay, and malocclusion are interrelated and can also lead to disabilities in communication and learning. Although such disabilities may cause social handicaps, most children receive a normal education. Their social maturity scale is comparable to that of normal children, but their scale of locomotion is not. The reported occupational level of female adult patients is lower than that of their unaffected siblings. When managing patients, orthopedists should consider the overall aspects of achondroplasia, including natural development and complications other than orthopedic factors.

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Year:  2004        PMID: 14767713     DOI: 10.1007/s00776-003-0729-4

Source DB:  PubMed          Journal:  J Orthop Sci        ISSN: 0949-2658            Impact factor:   1.601


  13 in total

1.  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

2.  Is bilateral lower limb lengthening appropriate for achondroplasia?: midterm analysis of the complications and quality of life.

Authors:  Seung-Ju Kim; Gracia Cielo Balce; Mandar Vikas Agashe; Sang-Heon Song; Hae-Ryong Song
Journal:  Clin Orthop Relat Res       Date:  2011-07-22       Impact factor: 4.176

3.  Correction of Bowleg Deformity in Achondroplasia through Combined Bony Realignment and Lateral Collateral Ligament Tightening.

Authors:  Binu T Kurian; Mohan V Belthur; Stanley Jones; Stephen N Giles; James A Fernandes
Journal:  Strategies Trauma Limb Reconstr       Date:  2019 Sep-Dec

4.  Bariatric surgery in a morbidly obese achondroplasic patient--use of the 6-minute walk test to assess mobility and quality of life.

Authors:  João Regis Ivar Carneiro; Vinícius Gomes da Silveira; Ana Carolina Nader Vasconcelos; Luciana Lopes de Souza; Denise Xerez; Gustavo Gavina da Cruz; José Carlos do Vale Quaresma; Raul G A Macedo; José Egídio Paulo de Oliveira
Journal:  Obes Surg       Date:  2007-02       Impact factor: 4.129

Review 5.  Achondroplasia: a comprehensive clinical review.

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

6.  How reliable are standard radiographic measures of the foot and ankle in children with achondroplasia?

Authors:  Jia Xu; Kwang-Won Park; Qing-Lin Kang; Young-Jin Jung; Hae-Ryong Song
Journal:  Clin Orthop Relat Res       Date:  2013-04-23       Impact factor: 4.176

7.  [Achondroplasia and hypochondroplasia in paediatric orthopaedics].

Authors:  J Correll
Journal:  Orthopade       Date:  2008-01       Impact factor: 1.087

8.  Health status of adults with short stature: a comparison with the normal population and one well-known chronic disease (rheumatoid arthritis).

Authors:  Heidi Johansen; Inger-Lise Andresen; Eva E Naess; Kare Birger Hagen
Journal:  Orphanet J Rare Dis       Date:  2007-02-27       Impact factor: 4.123

9.  Best practice guidelines for management of spinal disorders in skeletal dysplasia.

Authors:  Klane K White; Michael B Bober; Tae-Joon Cho; Michael J Goldberg; Julie Hoover-Fong; Melita Irving; Shawn E Kamps; William G Mackenzie; Cathleen Raggio; Samantha A Spencer; Viviana Bompadre; Ravi Savarirayan
Journal:  Orphanet J Rare Dis       Date:  2020-06-24       Impact factor: 4.123

Review 10.  Optimal management of complications associated with achondroplasia.

Authors:  Penny J Ireland; Verity Pacey; Andreas Zankl; Priya Edwards; Leanne M Johnston; Ravi Savarirayan
Journal:  Appl Clin Genet       Date:  2014-06-24
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