International network for natural sciences – research journal
  • mendeley icon
  • linkedin icon
  • google plus icon
  • twitter icon
  • google scholar icon
  • facebook icon

Skeletal dysplasia: a series of five cases of Bangladesh demonstrating classical achondroplasia

By: Tohura Tahsin1, Nazifa Zabeen1, Nishat Salsabil1, Sumaiya Rahman1, Ruksana Begum1, Raidah Fairuze Niti, Jarin Tasnim, Mohammad Jakir Hosen

Key Words: Achondroplasia, RAMP disorder, Cataract, Foot abnormality.

Int. J. Biosci. 16(3), 384-388, March 2020.

DOI: http://dx.doi.org/10.12692/ijb/16.3.384-388

Certification: ijb 2020 0055 [Generate Certificate]

Abstract

Achondroplasia is a metaphyseal dysplasia, mediated by FGFR3 gene mutation that results in abnormalities in cartilaginous bone growth which manifests in short limbs and rhizomelic disproportion of varying degrees of severity. Sufferers, such as those that have been presented here, complain of unabated limited range of motion and various other associated medical symptoms. The disorder is inherited as autosomal dominant and de novo mutations arise rather frequently in the general population. This text explores five similar and undiagnosed cases, whose external phenotype and associated medical symptoms are evidence of the classical achondroplasia, with description of a few unusual reported symptoms such as genetic bilateral cataract, and foot deformity. The alarming frequency of cases warrants greater attention by medical practitioners and researchers, and general awareness.

| Views 25 |

| Views 25 |

Skeletal dysplasia: a series of five cases of Bangladesh demonstrating classical achondroplasia

Pauli RM. 2019.Achondroplasia: a comprehensive clinical review. Orphanet Journal of Rare Diseases 14, 1-49.

https://doi.org/10.1186/s13023-018-0972-6

Webster MK, Donoghue DJ. 1996. Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia. The EMBO Journal 15(3), 520–7.

Ireland PJ, Pacey V, Zankl A, Edward P, Johnston LM, Savarirayan R. 2014. Optimal management of complications associated with achondroplasia. The Application of Clinical Genetics 7, 117–25.

https://doi.org/10.2147/TACG.S51485

Patil J, Rajeshprabhu K, Kapoor S, Shinde P. 2017. Achondroplasia associated with bilateral developmental cataract. Journal of Dental and Medical Sciences 16(6), 78-80.

https://doi.org/10.9790/0853-1606077880

Orioli IM, Castilla EE, Scarano G, Mastroiacovo P. 1995. Effect of paternal age in achondroplasia, thanatophoric dysplasia, and osteogenesisimperfecta. American Journal of Medical Genetics 59(2), 209–17.

https://doi.org/10.1002/ajmg.1320590218

Giudicelli MD, Serazin V, Le Sciellour CR, Albert M, Selva J, GiudicelliY. 2008. Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies. Fertility and Sterility 89(6), 1651–6.

http://dx.doi.org/10.1016/j.fertnstert.2007.04.037

Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N. 2013. Age dependent germlinemosaicism of the most common Noonan syndrome mutation shows the signature of germline selection. American Journal of Human Genetics 92(6), 917–26.

https://doi.org/10.1016/j.ajhg.2013.05.001

Pauli RM. Dominance and homozygosity in man. 1983. American Journal of Medical Genetics 16(4), 455–8.

https://doi.org/10.1002/ajmg.1320180322

Tohura Tahsin1, Nazifa Zabeen1, Nishat Salsabil1, Sumaiya Rahman1, Ruksana Begum1, Raidah Fairuze Niti, Jarin Tasnim, Mohammad Jakir Hosen.
Skeletal dysplasia: a series of five cases of Bangladesh demonstrating classical achondroplasia.
Int. J. Biosci. 16(3), 384-388, March 2020.
https://innspub.net/ijb/skeletal-dysplasia-series-five-cases-bangladesh-demonstrating-classical-achondroplasia/
Copyright © 2020
By Authors and International Network for
Natural Sciences (INNSPUB)
https://innspub.net
brand
innspub logo
english language editing
  • CALL FOR PAPERS
    CALL FOR PAPERS
    Publish Your Article
  • CALL FOR PAPERS
    CALL FOR PAPERS
    Submit Your Article
INNSPUB on FB
Email Update