Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hyperostosis cranialis interna is a recently described autosomal dominant bone disorder characterised by hyperostosis and osteosclerosis confined to the skull, especially the calvarium and the skull base. In the affected family members, we found variable simultaneous involvement of cranial nerves I, II, VII and VIII from late childhood onwards, most likely due to nerve entrapment. Auditory and vestibular functions were followed in 3 young family members for 8 years. At the first examination, pure tone audiograms were normal in all 3 cases and case 1 showed no caloric response in the right ear. During follow-up, this ear developed severe hearing loss progressing to deafness. The left ear showed transient sensorineural hearing loss and a temporarily diminished caloric response. Similar observations were made in case 2. Both cases showed abnormal brain stem auditory-evoked responses during and after the sudden hearing loss, in which initially only wave I was preserved and later on wave V returned with significantly prolonged I-V interval. The latter phenomenon was also observed in case 3 on both sides in the presence of normal audiograms during and after transient unilateral facial nerve paralysis, which was accompanied by bilateral diminished caloric responses.
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PMID:Eighth cranial nerve dysfunction in hyperostosis cranialis interna. 157 42

Hyperostosis cranialis interna is a hereditary bone disorder that is characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base (OMIM 144755). The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade. This study analyzes the clinical course of 13 affected individuals of three related families (32 individuals). The disorder appears to have an autosomal-dominant transmission pattern. Facial and vestibulocochlear nerve dysfunction are most frequently reported. Surgical decompression of the accessible impaired cranial nerves is advised in the early symptomatic period or even in the presymptomatic period in high-risk individuals.
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PMID:Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base. 2014 Sep 65