A delayed rehabilitation case: Rhizomelic chondrodysplasia punctata type 3

Volume: 5 Number: 2 August 1, 2016
  • Yasemin Yumuşakhuylu
  • Afitap İçağasıoğlu
  • Erkan Mesci
  • Ali İhsan Sungur
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A delayed rehabilitation case: Rhizomelic chondrodysplasia punctata type 3

Abstract

Rhizomelic chondrodysplasia punctata (RCDP) is a disorder resulting from mutations in peroxisomal genes essential for lipid biosynthesis. Affected patients have characteristic features like proximally shortened limbs, epiphyseal punctuate calcification, bilateral cataracts, growth and developmental delays. The majority of patients have RCDP type 1, around 5% have RCDP type 2 or 3. In this paper we report a case of 9 years old male child diagnosed as RCDP type 3 whose rehabilitation was ignored. We would like to emphasize the importance of rehabilitation which even a slight intervention of rehabilitation can contribute a lot to his functionality.

Keywords

Details

Primary Language

Turkish

Subjects

-

Journal Section

-

Authors

Yasemin Yumuşakhuylu This is me

Afitap İçağasıoğlu This is me

Erkan Mesci This is me

Ali İhsan Sungur This is me

Publication Date

August 1, 2016

Submission Date

August 1, 2016

Acceptance Date

-

Published in Issue

Year 2016 Volume: 5 Number: 2

IZ

https://izlik.org/JA43ME58FN

Cite

RIS / Bibtex
APA
Yumuşakhuylu, Y., İçağasıoğlu, A., Mesci, E., & Sungur, A. İ. (2016). Gecikmiş bir rehabilitasyon olgusu: Rizomelik kondrodisplazi punktata tip 3. Kocaeli Tıp Dergisi, 5(2), 42-45. https://izlik.org/JA43ME58FN
AMA
1.Yumuşakhuylu Y, İçağasıoğlu A, Mesci E, Sungur Aİ. Gecikmiş bir rehabilitasyon olgusu: Rizomelik kondrodisplazi punktata tip 3. Kocaeli Tıp Dergisi. 2016;5(2):42-45. https://izlik.org/JA43ME58FN
Chicago
Yumuşakhuylu, Yasemin, Afitap İçağasıoğlu, Erkan Mesci, and Ali İhsan Sungur. 2016. “Gecikmiş Bir Rehabilitasyon Olgusu: Rizomelik Kondrodisplazi Punktata Tip 3”. Kocaeli Tıp Dergisi 5 (2): 42-45. https://izlik.org/JA43ME58FN.
EndNote
Yumuşakhuylu Y, İçağasıoğlu A, Mesci E, Sungur Aİ (August 1, 2016) Gecikmiş bir rehabilitasyon olgusu: Rizomelik kondrodisplazi punktata tip 3. Kocaeli Tıp Dergisi 5 2 42–45.
IEEE
[1]Y. Yumuşakhuylu, A. İçağasıoğlu, E. Mesci, and A. İ. Sungur, “Gecikmiş bir rehabilitasyon olgusu: Rizomelik kondrodisplazi punktata tip 3”, Kocaeli Tıp Dergisi, vol. 5, no. 2, pp. 42–45, Aug. 2016, [Online]. Available: https://izlik.org/JA43ME58FN
ISNAD
Yumuşakhuylu, Yasemin - İçağasıoğlu, Afitap - Mesci, Erkan - Sungur, Ali İhsan. “Gecikmiş Bir Rehabilitasyon Olgusu: Rizomelik Kondrodisplazi Punktata Tip 3”. Kocaeli Tıp Dergisi 5/2 (August 1, 2016): 42-45. https://izlik.org/JA43ME58FN.
JAMA
1.Yumuşakhuylu Y, İçağasıoğlu A, Mesci E, Sungur Aİ. Gecikmiş bir rehabilitasyon olgusu: Rizomelik kondrodisplazi punktata tip 3. Kocaeli Tıp Dergisi. 2016;5:42–45.
MLA
Yumuşakhuylu, Yasemin, et al. “Gecikmiş Bir Rehabilitasyon Olgusu: Rizomelik Kondrodisplazi Punktata Tip 3”. Kocaeli Tıp Dergisi, vol. 5, no. 2, Aug. 2016, pp. 42-45, https://izlik.org/JA43ME58FN.
Vancouver
1.Yasemin Yumuşakhuylu, Afitap İçağasıoğlu, Erkan Mesci, Ali İhsan Sungur. Gecikmiş bir rehabilitasyon olgusu: Rizomelik kondrodisplazi punktata tip 3. Kocaeli Tıp Dergisi [Internet]. 2016 Aug. 1;5(2):42-5. Available from: https://izlik.org/JA43ME58FN