Abstract
We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa.
Original language | English |
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Pages (from-to) | 776-779 |
Number of pages | 4 |
Journal | American Journal of Medical Genetics |
Volume | 43 |
Issue number | 5 |
DOIs | |
State | Published - 1992 |
Externally published | Yes |
Keywords
- dystrophic nails
- enamel defect of the teeth
- lens subluxation