Conradi-Hunerman syndrome. Case report.
Conradi-Hunerman syndrome, a variant of chondrodysplasia punctata, rarely presents with primary manifestations relevant to the head and neck surgeon. Usually, the disease is evidenced by malformation of the extremities, cataracts, cutaneous lesions, and an unusual facies. We have followed a child with Conradi-Hunerman syndrome for 7 years whose primary manifestation of the disease is respiratory compromise secondary to calcification of the laryngotracheobronchial tree. In addition, he has a conductive hearing loss thought to be secondary to ossicular chain fixation.
Hochman
M
M
Division of Otolaryngology/Head and Neck Surgery, Stanford University Medical Center, California.
Fee
W E
WE
D001982:Bronchial Diseases / Q000150:complications*; D002114:Calcinosis / Q000150:complications*; D002806:Chondrodysplasia Punctata / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D007818:Laryngeal Diseases / Q000150:complications*; D008297:Male; D012131:Respiratory Insufficiency / Q000209:etiology*; D014133:Tracheal Diseases / Q000150:complications*