ISSN:
1435-232X
Keywords:
Key words Deafness
;
Onychodystrophy
;
Autosomal dominant inheritance
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract The disease "deafness and onychodystrophy" (DOD) is characterized by congenital hearing impairment and dystrophic or absent nails and teeth. The autosomal dominant form of the disorder has been previously reported only in one family. We describe here another family in which three members in three generations (a girl, her mother, and her maternal grandfather) were affected with DOD. Our finding is consistent with an autosomal dominant mode of inheritance and confirms autosomal dominant DOD (DDOD, MIM *124480) as a recognizable clinical entity.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/s100380050109
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