Literature DB >> 16140722

Health supervision for children with achondroplasia.

Tracy L Trotter, Judith G Hall.   

Abstract

Achondroplasia is the most common condition associated with disproportionate short stature. Substantial information is available concerning the natural history and anticipatory health supervision needs in children with this dwarfing disorder. Most children with achondroplasia have delayed motor milestones, problems with persistent or recurrent middle-ear dysfunction, and bowing of the lower legs. Less often, infants and children may have serious health consequences related to hydrocephalus, craniocervical junction compression, upper-airway obstruction, or thoracolumbar kyphosis. Anticipatory care should be directed at identifying children who are at high risk and intervening to prevent serious sequelae. This report is designed to help the pediatrician care for children with achondroplasia and their families.

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Year:  2005        PMID: 16140722     DOI: 10.1542/peds.2005-1440

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  41 in total

Review 1.  Skeletal dysplasias.

Authors:  Deborah Krakow
Journal:  Clin Perinatol       Date:  2015-04-08       Impact factor: 3.430

2.  A three-month-old achondroplastic baby with both obstructive apneas and central apneas.

Authors:  Lourdes M DelRosso; Eduardo Gonzalez-Toledo; Romy Hoque
Journal:  J Clin Sleep Med       Date:  2013-03-15       Impact factor: 4.062

Review 3.  Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.

Authors:  Sarah M Nikkel
Journal:  Curr Osteoporos Rep       Date:  2017-10       Impact factor: 5.096

Review 4.  Advances in research on and diagnosis and treatment of achondroplasia in China.

Authors:  Yao Wang; Zeying Liu; Zhenxing Liu; Heng Zhao; Xiaoyan Zhou; Yazhou Cui; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2013-05

5.  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

6.  Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records.

Authors:  Marco Zaffanello; Giorgio Piacentini; Luca Sacchetto; Angelo Pietrobelli; Emma Gasperi; Marco Barillari; Nicolò Cardobi; Luana Nosetti; Diego Ramaroli; Franco Antoniazzi
Journal:  Med Princ Pract       Date:  2018-06-21       Impact factor: 1.927

7.  Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia.

Authors:  Yakup Akyol; Lauren W Averill; Alfred Atanda; Heidi H Kecskemethy; Michael B Bober; William G Mackenzie
Journal:  Pediatr Radiol       Date:  2014-11-29

Review 8.  Achondroplasia: a comprehensive clinical review.

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

9.  Whole-exome sequencing and whole genome re-sequencing for prenatal diagnosis of achondroplasia.

Authors:  Rong Zhao; Yan Ruan; Xin Wang
Journal:  Int J Clin Exp Med       Date:  2015-10-15

10.  Molecular studies of achondroplasia.

Authors:  Risha Nahar; Renu Saxena; Sudha Kohli; Ratna Puri; Ishwar Chandra Verma
Journal:  Indian J Orthop       Date:  2009-04       Impact factor: 1.251

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