Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of bronchiectasis in a 26-year-old man associated with the following congenital abnormalities: deafness, purulent bronchorrhea, nasal polyps, dysmorphic physical pattern and chronic sinusitis. Situs inversus was absent. A sampling was performed on the posterior nasal mucous membrane and displayed structural ciliary abnormality: a deficiency of the intern dynein-arm. The patient's bother was affected and had similar features: congenital bronchiectasis, deafness, mental deficiency and sinusitis. Young's syndrome was relevant in this case. Hereditary ciliary dyskinesia should be considered in adults with bronchiectasis together with rhinologic and alimentary canal disorders. Nasal biopsies are safe and allow cilia examination.
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PMID:[Adult bronchiectasis revealing familial ciliary anomaly]. 1061 56