Article
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.
The Journal of pediatrics - 1 Oct 2014
Shapiro Adam J, Weck Karen E, Chao Kay C, Rosenfeld Margaret, Nygren Anders O H, Knowles Michael R, Leigh Margaret W, Zariwala Maimoona A
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.