Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 25066065.
- Also identified by DOI 10.1016/j.jpeds.2014.06.048 and PMC identifier 4177261.
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Abstract
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.
Medical subject headings
- Chromosomes, Human, Pair 5
- Cri-du-Chat Syndrome
- Kartagener Syndrome
- Mutation