Case Report
Year 2022,
Volume: 19 Issue: 3, 658 - 661, 27.12.2022
Abstract
Konjenital eklem çıkıklarının eşlik ettiği Spondiloepifizyal Displazi (SEDCJD); multipl çıkıklarla seyreden farklı alt tipleri bulunan genetik bir hastalıktır. CHST3 geninde mutasyon nedeniyle meydana gelir. Kısa gövdeli cücelik, eklem çıkıkları veya eklem hareket kısıtlılıklarıyla (diz,kalça,dirsek) ortaya çıkan uzun ve basamaklı cerrahiler gerektiren bir sendromdur. Bu vaka raporunda ilk kez bildirilen in frame tip bir delesyonu tanımladık. Hastaya uygulanan basamaklı cerrahi programı ve sonuçlarını da ekledik.
References
- Referans1:Albuz B., Çetin G.O., Özhan B., Sarikepe B., Anlaş Ö., Öztürk M., et al. A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type. Clinical Dysmorphology. 2020;29:61–4.
- Referans2:Superti-Furga A, Unger S. CHST3-Related Skeletal Dysplasia. 2011 Sep 1 [Updated 2019 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/
- Referans3:Thiele H., Sakano M., Kitagawa H., Sugahara K., Rajab A., Höhne W., et al. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA. 2004;101:10155–60.
- Referans4:Unger S., Lausch E., Rossi A., Mégarbané A., Sillence D., Alcausin M. et al. Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features. Am J Med Genet Part A. 2010;152A:2543–9.
- Referans5:Srivastava P., Pandey H., Agarwal D., Mandal K., Phadke S.R. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. Am J Med Genet A. 2017; 173:163–8.
- Referans6:Duz M.B., Topak A. Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review. Clinical Dysmorphology. 2020; 29:167–72.
- Referans7:Tuysuz B., Mizumoto S., Sugahara K., Celebi A., Mundlos S., Turkmen S. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. Clin Genet. 2009;75:375–83.
- Referans8:Waryaha A.M., Shahzadb M., Shaikha H., Sheikha S.A., Channac N.A., Hufnageld R.B. et al. A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clin Genet. 2016(July); 90(1): 90–5.
- Referans9:Rajab A., Kunze J., Mundlos S. Spondyloepiphyseal Dysplasia Omani Type: A New Recessive Type of SED With Progressive Spinal Involvement. American Journal of Medical Genetics. 2004; 126A:413–19.
- Referans 10:Mei H., He R., Liu K., Wu J., Tang J., Yan A. Presumed Larsen syndrome in a child: a case with a 12-year follow-up. Journal of Pediatric Orthopaedics B. 2015;24:268–73.
Year 2022,
Volume: 19 Issue: 3, 658 - 661, 27.12.2022
Abstract
Spondyloepiphyseal Dysplasia (SED) accompanying with congenital joint dislocations; is a genetic disease with different subtypes that progress with multiple dislocations. It occurs due to a mutation in the CHST3 gene. This syndrome requires long and cascading surgeries, which presents with short-bodied dwarfism, joint dislocations and range of motion (ROM) limitations (knee, hip, elbow). In this case report, we describe an in frame type deletion reported for the first time. We also included the step-by-step surgery program applied to the patient and its results.
References
- Referans1:Albuz B., Çetin G.O., Özhan B., Sarikepe B., Anlaş Ö., Öztürk M., et al. A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type. Clinical Dysmorphology. 2020;29:61–4.
- Referans2:Superti-Furga A, Unger S. CHST3-Related Skeletal Dysplasia. 2011 Sep 1 [Updated 2019 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books/
- Referans3:Thiele H., Sakano M., Kitagawa H., Sugahara K., Rajab A., Höhne W., et al. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA. 2004;101:10155–60.
- Referans4:Unger S., Lausch E., Rossi A., Mégarbané A., Sillence D., Alcausin M. et al. Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features. Am J Med Genet Part A. 2010;152A:2543–9.
- Referans5:Srivastava P., Pandey H., Agarwal D., Mandal K., Phadke S.R. Spondyloepiphyseal dysplasia Omani type: CHST3 mutation spectrum and phenotypes in three Indian families. Am J Med Genet A. 2017; 173:163–8.
- Referans6:Duz M.B., Topak A. Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review. Clinical Dysmorphology. 2020; 29:167–72.
- Referans7:Tuysuz B., Mizumoto S., Sugahara K., Celebi A., Mundlos S., Turkmen S. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. Clin Genet. 2009;75:375–83.
- Referans8:Waryaha A.M., Shahzadb M., Shaikha H., Sheikha S.A., Channac N.A., Hufnageld R.B. et al. A novel CHST3 allele associated with Spondyloepiphyseal dysplasia and hearing loss in Pakistani kindred. Clin Genet. 2016(July); 90(1): 90–5.
- Referans9:Rajab A., Kunze J., Mundlos S. Spondyloepiphyseal Dysplasia Omani Type: A New Recessive Type of SED With Progressive Spinal Involvement. American Journal of Medical Genetics. 2004; 126A:413–19.
- Referans 10:Mei H., He R., Liu K., Wu J., Tang J., Yan A. Presumed Larsen syndrome in a child: a case with a 12-year follow-up. Journal of Pediatric Orthopaedics B. 2015;24:268–73.
There are 10 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Clinical Sciences |
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 27, 2022 |
| Submission Date | October 11, 2022 |
| Acceptance Date | November 21, 2022 |
| Published in Issue | Year 2022 Volume: 19 Issue: 3 |
Harran Üniversitesi Tıp Fakültesi Dergisi / Journal of Harran University Medical Faculty