Rare congenital syndrome associated with profound hearing loss.
In this communication, we describe the otologic and audiometric findings of a rare congenital syndrome associated with profound hearing loss. We offer a hypothesis of the possible inner ear pathologic condition. The major anomalies of this syndrome represent features of an ectodermal dysplasia syndrome.
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D003638:Deafness / Q000209:etiology*; D006801:Humans; D008049:Lipase / Q000172:deficiency*; D008052:Lipid Metabolism, Inborn Errors / Q000150:complications*; D008286:Malabsorption Syndromes / Q000150:complications*; D008297:Male
D008049:Lipase