¿p#1 Case Report: A Complex Presentation of Jacobsen Syndrome Complicated by Persistent Thrombocytopenia and Sensorineural Hearing Loss

Abstract excerpt

This case report discusses a 3 year old female, diagnosed to be Jacobsen syndrome, who presented initially with spontaneous bruising and fever. Her medical history was significant for thrombocytopenia persisting since birth, recurrent infections, a congenital heart defect, general developmental delay and sensorineural hearing loss, diagnosed newly. In this case, the authors describe the multiple complications caus...

Topics

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• Bartter Syndrome
• Child
• Congenital gastrointestinal and neural anomalies
• Diagnosis, Differential
• Kearns-Sayre Syndrome
• Mutation
• Phenotype
• Thrombocytopenia

Identifiers and source

Literature Corpus work

d15ea49f-f925-5079-aba2-7706089d10b1

DOI

10.22541/au.176339182.25658696/v1