Literature DB >> 30606190

Achondroplasia: a comprehensive clinical review.

Richard M Pauli1.   

Abstract

Achondroplasia is the most common of the skeletal dysplasias that result in marked short stature (dwarfism). Although its clinical and radiologic phenotype has been described for more than 50 years, there is still a great deal to be learned about the medical issues that arise secondary to this diagnosis, the manner in which these are best diagnosed and addressed, and whether preventive strategies can ameliorate the problems that can compromise the health and well being of affected individuals. This review provides both an updated discussion of the care needs of those with achondroplasia and an exploration of the limits of evidence that is available regarding care recommendations, controversies that are currently present, and the many areas of ignorance that remain.

Entities:  

Keywords:  Achondroplasia; Care guidelines; FGFR3; Natural history; Skeletal dysplasia

Mesh:

Substances:

Year:  2019        PMID: 30606190      PMCID: PMC6318916          DOI: 10.1186/s13023-018-0972-6

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN: 1750-1172            Impact factor:   4.123


  354 in total

1.  MRI study of the lumbar spine in achondroplasia. A morphometric analysis for the evaluation of stenosis of the canal.

Authors:  S-T Jeong; H-R Song; S M Keny; S S Telang; S-W Suh; S-J Hong
Journal:  J Bone Joint Surg Br       Date:  2006-09

2.  Statins do not inhibit the FGFR signaling in chondrocytes.

Authors:  B Fafilek; M Hampl; N Ricankova; I Vesela; L Balek; M Kunova Bosakova; I Gudernova; M Varecha; M Buchtova; P Krejci
Journal:  Osteoarthritis Cartilage       Date:  2017-06-03       Impact factor: 6.576

3.  Orthopedic aspects of achondroplasia in children.

Authors:  S E Kopits
Journal:  Basic Life Sci       Date:  1988

4.  Thoracolumbar kyphosis and lumbosacral hyperlordosis in achondroplastic children.

Authors:  S E Kopits
Journal:  Basic Life Sci       Date:  1988

5.  Long-term follow-up of a patient with achondroplasia treated with an orthodontic approach.

Authors:  Hiroyo Mori; Kazuma Matsumoto; Nobuhiko Kawai; Takashi Izawa; Shinya Horiuchi; Eiji Tanaka
Journal:  Am J Orthod Dentofacial Orthop       Date:  2017-04       Impact factor: 2.650

6.  Familial acanthosis nigricans due to K650T FGFR3 mutation.

Authors:  David R Berk; Elaine B Spector; Susan J Bayliss
Journal:  Arch Dermatol       Date:  2007-09

7.  Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.

Authors:  Sumire Terasawa; Asuka Kato; Haruki Nishizawa; Takema Kato; Hikari Yoshizawa; Yoshiteru Noda; Jun Miyazaki; Mayuko Ito; Takao Sekiya; Takuma Fujii; Hiroki Kurahashi
Journal:  Congenit Anom (Kyoto)       Date:  2018-04-15       Impact factor: 1.409

8.  Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesis imperfecta.

Authors:  I M Orioli; E E Castilla; G Scarano; P Mastroiacovo
Journal:  Am J Med Genet       Date:  1995-11-06

Review 9.  An official American Thoracic Society Clinical Practice Guideline: sleep apnea, sleepiness, and driving risk in noncommercial drivers. An update of a 1994 Statement.

Authors:  Kingman P Strohl; Daniel B Brown; Nancy Collop; Charles George; Ronald Grunstein; Fang Han; Lawrence Kline; Atul Malhotra; Alan Pack; Barbara Phillips; Daniel Rodenstein; Richard Schwab; Terri Weaver; Kevin Wilson
Journal:  Am J Respir Crit Care Med       Date:  2013-06-01       Impact factor: 21.405

10.  Some psychosocial aspects of nonlethal chondrodysplasias: II. Depression and anxiety.

Authors:  A G Hunter
Journal:  Am J Med Genet       Date:  1998-06-16
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  61 in total

1.  Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.

Authors:  April N Meyer; Peggy Modaff; Clark G Wang; Elizabeth Wohler; Nara L Sobreira; Daniel J Donoghue; Richard M Pauli
Journal:  Am J Med Genet A       Date:  2020-12-02       Impact factor: 2.802

Review 2.  The duality of human oncoproteins: drivers of cancer and congenital disorders.

Authors:  Pau Castel; Katherine A Rauen; Frank McCormick
Journal:  Nat Rev Cancer       Date:  2020-04-27       Impact factor: 60.716

3.  Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?

Authors:  H M Pascoe; J Y-M Yang; J Chen; A M Fink; S Kumbla
Journal:  AJNR Am J Neuroradiol       Date:  2019-12-19       Impact factor: 3.825

4.  [Clinical features and FGFR3 mutations of children with achondroplasia].

Authors:  Hui-Qin Zhang; Dong-Ying Tao; Jing-Jing Zhang; Huan-Hong Niu; Jian-Feng Luo; Sheng-Quan Cheng
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2022-04-15

5.  The pelvic radiograph: lines, arcs and stripes.

Authors:  Phey Ming Yeap; Matthew J Budak
Journal:  Singapore Med J       Date:  2021-07       Impact factor: 1.858

Review 6.  Neurological Manifestations of Achondroplasia.

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

7.  Sleep Characteristics of Highly Trained Wheelchair Rugby Athletes With and Without a Cervical Spinal Cord Injury During the Competitive Season.

Authors:  Conor J Murphy; Iuliana Hartescu; Ifan E Roberts; Christof A Leicht; Vicky L Goosey-Tolfrey
Journal:  Front Sports Act Living       Date:  2021-04-29

8.  Novel Physique Index for the Screening of Skeletal Dysplasia at Birth.

Authors:  Ryoji Aoki; Nobuhiko Nagano; Aya Okahashi; Shoko Ohashi; Yoshinori Fujinaka; Itsuro Takigawa; Ken Masunaga; Ichiro Morioka
Journal:  Children (Basel)       Date:  2021-04-25

Review 9.  Functional and morphological changes in hypoplasic posterior fossa.

Authors:  Federico Bianchi; Alberto Benato; Paolo Frassanito; Gianpiero Tamburrini; Luca Massimi
Journal:  Childs Nerv Syst       Date:  2021-06-25       Impact factor: 1.475

Review 10.  Osteomyelitis variolosa, an issue inherited from the past: case report and systematic review.

Authors:  Jinshuo Tang; Pu Shao; Te Liu; Xinggui Wen; Yeliang Wang; Chenyu Wang; Yachen Peng; Hua Yao; Jianlin Zuo
Journal:  Orphanet J Rare Dis       Date:  2021-08-06       Impact factor: 4.123

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