Abstract |
A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in these subjects are compared with those noted in previously reported patients with Bart-Pumphrey syndrome. The range of disorders which include knuckle pads as part of the phenotype is reviewed.
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Authors | J C Ramer, D B Vasily, R L Ladda |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 31
Issue 1
Pg. 68-71
(Jan 1994)
ISSN: 0022-2593 [Print] England |
PMID | 8151643
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(genetics)
- Adult
- Female
- Fibrocystic Breast Disease
(genetics)
- Hand Dermatoses
(genetics)
- Hearing Disorders
(congenital, genetics)
- Humans
- Infant
- Keratosis
(genetics)
- Male
- Pedigree
- Syndrome
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