The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

The additional genetic diagnosis of homozygous sickle cell disease in a patient with Waardenburg-Shah syndrome: a case report

Abstract Background It is important that multiple genetic diagnoses are not missed. This case report describes the clinical features and management of a patient with co-inheritance of Waardenburg syndrome type 4 or Waardenburg-Shah syndrome, an extremely rare disease, and homozygous sickle cell dise...

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Bibliographic Details
Main Authors: Angela E. Rankine-Mullings, Graham Serjeant, Zachary Ramsay, Neil A. Hanchard, Monika Asnani
Format: Article
Language:English
Published: BMC 2019-01-01
Series:Journal of Medical Case Reports
Subjects:
Sickle cell disease
Waardenburg-Shah syndrome
Constipation
Deafness
Blue eyes
Online Access:http://link.springer.com/article/10.1186/s13256-018-1953-z

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