Bernard Soulier syndrome: A case report from Pakistan-Reference-Cited by-同舟云学术

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Bernard Soulier syndrome: A case report from Pakistan

Published:2023-07-30 Issue:8 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Effendi Iqra¹,Nadeem Ahsan²,Sarfraz Sara¹,Shahid Mubasshar¹,Farooq Minaam³,Anand Ayush⁴^ORCID

Affiliation:

1. CMH Lahore Medical College and Institute of Dentistry Lahore Pakistan

2. Rashid Latif Medical College Lahore Pakistan

3. Mayo Hospital Lahore Pakistan

4. BP Koirala Institute of Health Sciences Dharan Nepal

Abstract

Key Clinical MessageBernard Soulier Syndrome should be suspected in patients with bleeding disorder symptoms and significant family history, where consanguineous marriages are common. Diagnosis can be confirmed using a ristocetin test and a peripheral blood smear.

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7767

Reference14 articles.

1. Molecular basis of Bernard-Soulier syndrome in 27 patients from India

2. Congenital disorders associated with platelet dysfunctions

3. Novel Mutation in Bernard-Soulier Syndrome

4. Inherited platelet-based bleeding disorders

5. Novel point mutation in a leucine-rich repeat of the GPIb chain of the platelet von Willebrand factor receptor, GPIb/IX/V, resulting in an inherited dominant form of Bernard-Soulier syndrome affecting two unrelated families: the N41H variant

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