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Diagnosis of thanatophoric dysplasia using clinical exome screening


Authors: M. Holub 1;  M. Sekowská 1;  D. Smetanová 1;  M. Koudová 1;  K. Sobolová 1;  A. Šinská 2 ;  Hynek Heřman 3
Authors‘ workplace: Centrum fetální medicíny a lékařské genetiky, GENNET, Praha 1;  Porodnicko-gynekologická klinika LF UP a FN Olomouc 2;  Ústav pro péči o matku a dítě, Praha 3
Published in: Ceska Gynekol 2023; 88(5): 376-379
Category: Case Report
doi: https://doi.org/10.48095/cccg2023376

Overview

Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.

Keywords:

skletal dysplasia – whole exome – thanaphoric dysplasia


Sources

1. Maroteux P, Lamy M, Rober JM. Le Nanisme thanatophore. Prese Med 1967; 75 (49): 2519–2524.

2. Barbosa-Buck CO, Orioli IM, Dutra MG et al. Clinical epidemiology of skeletal dysplasias in South America. Am J Med Genet A 2012; 158A (5): 1038–1045. doi: 10.1002/ajmg.a.35 246.

3. MacDonald IM, Hunter AG, MacLeod PM et al. Growth and development in thanatophoric dysplasia. Am J Med Genet 1989; 33 (4): 608–612. doi: 10.1002/ajmg.1320330420.

4. Tonoki H. A boy with thanatophoric dysplasia surviving 212 days. Clin.Genet 1987; 32 (6): 415–416. doi: 10.1111/j.1399-0004.1987.tb03161.x.

5. Hevner RF. The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis. Acta Neuropathol 2005; 110 (3): 208–221. doi: 10.1007/s00401-005-1059-8.

6. Tavormina PL, Shiang R, Thompson LM et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995; 9 (3): 321–328. doi: 10.1038/ng0395-321.

7. Passos-Bueno MR, Wilcox WR, Jabs EW et al. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 1999; 14 (2): 115–125. doi: 10.1002/ (SICI) 1098-1004 (1999) 14: 2<115:: AID-HUMU3>3.0.CO; 2-2.

8. Sawai H, Komori S, Ida A et al. Prenatal diag- nosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results. Prenat Diagn 1999; 19 (1): 21–24. doi: 10.1002/ (sici) 1097-0223 (199901) 19: 1<21:: aid-pd457>3.0.co; 2-5.

9. Horton WA, Hood OJ, Machado MA et al. Abnormal ossification in thanatopforic dysplazia. Bone 1988; 9 (1): 53–61. doi: 10.1016/8756-3282 (88) 90027-0.

10. the Human Phenotype Ontology terms. Online [2023]. Available from: https: //hpo.jax.org/app/.

11. Mortier GR, Cohn DH, Cormier-Daire V et al. Nosology and classification of genetic skeletal disorders: 2019 revision. Am J Med Genet A 2019; 179 (12): 2393–2419. doi: 10.1002/ajmg.a.61 366.

12. Tang H, Zhang Q, Xiang J et al. Whole exome sequencing aids the diagnosis of fetal skeletal dysplasia. Front Genet 2021; 12: 599863. doi: 10.3389/fgene.2021.599863.

13. Cao J, Chen A, Tian L et al. Application of whole exome sequencing in fetal cases with skeletal abnormalities. Heliyon 2022; 8 (7): e09819. doi: 10.1016/j.heliyon.2022.e09819.

14. Peng Y, Yang S, Huang X et al. Whole exome sequencing analysis in fetal skeletal dysplasia detected by ultrasonography: an analysis of 38 cases. Front Genet 2021; 12: 728544. doi: 10.3389/fgene.2021.728544.

Labels
Paediatric gynaecology Gynaecology and obstetrics Reproduction medicine

Article was published in

Czech Gynaecology

Issue 5

2023 Issue 5

Most read in this issue
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