Klippel Feil Syndrome presenting with tricuspid regurgitation and cardiopulmonary distress secondary to dysplastic thoracic cage and spine: A case report

被引：1

作者：

Naz, Sidra ^{[1
,2
]}

Susheela, Ammu Thampi ^{[3
]}

Jaiswal, Vikash ^{[4
,5
]}

Quinonez, Jon ^{[5
]}

Patel, Srushti ^{[6
]}

Shrestha, Abhigan Babu ^{[7
]}

机构：

[1] Univ Hlth Sci, Lahore, Pakistan

[2] Univ Texas MD Anderson Canc Ctr, Houston, TX USA

[3] Loyola MacNeal Hosp, Dept Internal Med, Berwyn, IL USA

[4] AMA Sch Med, Makati, Philippines

[5] Larkin Community Hosp, South Miami, FL 33143 USA

[6] Gujarat Med Educ & Res Soc GMERS Med Coll, Vadodara, India

[7] M Abdur Rahim Med Coll, Dinajpur, Bangladesh

来源：

ANNALS OF MEDICINE AND SURGERY | 2022年 / 82卷

关键词：

Paediatrics; Pathology; Klippel Feil Syndrome;

D O I：

10.1016/j.amsu.2022.104546

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background: Klippel Feil syndrome is a rare multifactorial disease that occurs due to a combination of genetic and environmental factors. It is a complex disease that requires lifelong treatment by multidisciplinary teams.Case report: We present a case of a 15-year-old girl who presented with fever and shortness of breath and was found to have Klippel Feil Syndrome with a unique presentation of tricuspid regurgitation with cardiopulmonary distress secondary to dysplastic thoracic cage and spine.Discussion: Patients with Klippel feil syndrome are at increased risk for infection and cardiovascular problems. Proper surgical and medical management are required for patient wellbeing. Delay in diagnosis and management can be fatal with worse outcome.

引用

页数：4

共 4 条

[1] Cardiopulmonary Complications of Klippel-Feil Syndrome: A Case Report
Bridglal, Ranjiv-a M.
CUREUS JOURNAL OF MEDICAL SCIENCE, 2024, 16 (08)
[2] Tetraparesis following thoracic spine surgery in a patient with Klippel-Feil syndrome and ABCB4 mutation: a case report
Da Broi, Michele
Nouri, Aria
Patet, Gildas
Paun, Luca
Bartoli, Andrea
Molliqaj, Granit
Schaller, Karl
Tessitore, Enrico
JOURNAL OF MEDICAL CASE REPORTS, 2023, 17 (01)
[3] Klippel-Feil Syndrome With Auxiliary Anterior Cervical Meningomyelocele and Thoracic Syringomyelia A Case Report
Alam, Mehtab
ul Haq, Ayaz
Shah, Muzaffar
Haqqani, Usman
Ullah, Sajjad
SPINE, 2020, 45 (06) : E342 - E345
[4] ANOMALOUS RIB PRESENTING AS CERVICAL MYELOPATHY - A PREVIOUSLY UNREPORTED VARIANT OF KLIPPEL-FEIL SYNDROME - CASE-REPORT
ROCK, JP
SPICKLER, EM
JOURNAL OF NEUROSURGERY, 1991, 75 (03) : 465 - 467

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