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Chapter 4 - Bone Marrow Failure Syndromes

from Section II - Bone Marrow Failure and Immune Disorders

Published online by Cambridge University Press:  30 January 2021

By
Amy E. Geddis ,
Meera Srikanthan  and
Katie Bergstrom
Edited by
Pedro A. de Alarcón ,
Eric J. Werner ,
Robert D. Christensen  and
Martha C. Sola-Visner
Pedro A. de Alarcón
Affiliation:
University of Illinois College of Medicine
Eric J. Werner
Affiliation:
Children's Hospital of the King's Daughters
Robert D. Christensen
Affiliation:
University of Utah
Martha C. Sola-Visner
Affiliation:
Harvard University, Massachusetts
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Summary

Inherited bone marrow failure syndromes (IBMFS) are a rare but important consideration in the differential diagnosis of cytopenias in childhood [1]. However, diagnosis of IBMFS in the newborn period can be challenging because many of the manifestations considered typical for a specific disorder may not yet be present, and in many cases children will not be recognized until later in life. Young children with IBMFS may have one or more cytopenias, congenital anomalies, both, or neither. A high index of suspicion for an IBMFS is required in order to establish the correct diagnosis, determine appropriate clinical management and follow up plans, and provide the family with genetic counseling. Some IBMFS predispose to leukemia or solid tumors; while the development of cancer is uncommon in the newborn period, this risk is an important determinant of subsequent follow up for the child and any affected family members.

Type
Chapter
Information
Neonatal Hematology
Pathogenesis, Diagnosis, and Management of Hematologic Problems
 , pp. 43 - 61
Publisher: Cambridge University Press
Print publication year: 2021

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