Article Sidebar

pdf
Issue: Vol. 562 No. 3 (2026)
Section: Các bài báo
DOI: 10.51298/vmj.v562i3.18566
Date Published: 13/08/2026
Views 22
Downloads 9
How to Cite
Hồ , T. H. (2026). PROLONGED WHEEZING IN INFANTS ASSOCIATED WITH GENETIC ABERRATION: A RARE CASE REPORT. Vietnam Medical Journal, 562(3). https://doi.org/10.51298/vmj.v562i3.18566

PROLONGED WHEEZING IN INFANTS ASSOCIATED WITH GENETIC ABERRATION: A RARE CASE REPORT

Thiên Hương Hồ 1,
1 Bệnh viện Nhi Đồng 1

Main Article Content

Abstract

Background: Persistent, treatment-refractory wheeze in infancy should prompt evaluation for structural and genetic disorders.


Objective: Jeune syndrome (asphyxiating thoracic dystrophy) is a rare ciliopathy characterized by narrow thorax and multisystem involvement.


Methods: We report a 16-month-old boy with recurrent wheeze; clinical, imaging, and genetic data were analyzed.


Results: The patient exhibited narrow thorax, persistent obstructive physiology, nystagmus, bilateral renal cysts, coarse liver parenchyma and pulmonary hypertension. CNV analysis was negative; gene panel sequencing identified a pathogenic variant consistent with a ciliopathy.


Conclusion: Multidisciplinary assessment and early genetic testing are essential in infants with persistent wheeze and extra-pulmonary features.

Keywords

Jeune syndrome (asphyxiating thoracic dystrophy), ciliopathy

Article Details

References

1. Baujat G, Huber C, El Hokayem J, et al. Asphyxiating thoracic dystrophy (Jeune syndrome): clinical and molecular spectrum and respiratory outcome. Eur Respir J. 2018;51(4):1701877. doi:10.1183/13993003.01877-2017
2. Czarnecki PG, Gabriel GC, Manning DK, et al. IFT140 mutations cause short-rib thoracic dysplasia and define a phenotype spectrum of skeletal ciliopathies. Hum Mutat. 2015;36(6):540–549. doi:10.1002/humu.22771
3. Hiyoshi M, Hasegawa T, Nagase T, et al. Renal progression in IFT140-associated ciliopathy: genotype–phenotype correlation. Clin Genet. 2019;96(2):155–163. doi:10.1111/cge.13541
4. Perrault I, Saunier S, Hanein S, et al. Mainzer-Saldino syndrome and IFT140-related ciliopathy spectrum: clinical and molecular findings. Hum Genet. 2016;135(8):1041–1053. doi:10.1007/s00439-016-1698-7
5. Ramirez N, Flynn JM, Emans JB, et al. Vertical expandable prosthetic titanium rib (VEPTR) in thoracic insufficiency syndrome: long-term outcomes. Spine. 2020;45(8):E454–E462. doi:10.1097/BRS.0000000000003316
6. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: ACMG-AMP recommendations (updated framework). Genet Med. 2015;17(5):405–424. Updated guidance 2022.
7. Schmidts M, Arts HH, Bongers EMHF, et al. Exome sequencing identifies IFT140 mutations in patients with short-rib thoracic dysplasia and highlights genotype–phenotype correlations. Genet Med. 2016;18(9):907–915. doi:10.1038/gim.2015.195
8. Schmidts M. Clinical genetics and pathobiology of skeletal ciliopathies. J Med Genet. 2015;52(9):593–603. doi:10.1136/jmedgenet-2015-103089