Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p

Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary s...

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Bibliographic Details
Published in:The Journal of pediatrics 2014-10, Vol.165 (4), p.858-861
Main Authors: Shapiro, Adam J., MD, Weck, Karen E., MD, Chao, Kay C., MS, PhD, Rosenfeld, Margaret, MD, MPH, Nygren, Anders O.H., MSc, PhD, Knowles, Michael R., MD, Leigh, Margaret W., MD, Zariwala, Maimoona A., MSc, PhD
Format: Article
Language:English
Subjects:
Axonemal Dyneins - genetics
Child
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 5 - genetics
Codon
Cri-du-Chat Syndrome - diagnostic imaging
Cri-du-Chat Syndrome - genetics
Female
Hemizygote
Humans
Kartagener Syndrome - diagnostic imaging
Kartagener Syndrome - genetics
Male
Mutation
Pediatrics
Phenotype
Radiography
Respiration Disorders - diagnostic imaging
Respiration Disorders - genetics
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Summary:Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.
ISSN:0022-3476
1097-6833
1097-6833
DOI:10.1016/j.jpeds.2014.06.048