Abstract
We describe a new case of a rare syndrome characterized by ocular abnormalities and pathognomonic linear skin defects. This syndrome is the result of an unbalanced translocation resulting in a deletion of the distal end of the short arm of the X chromosome. We report the thirteenth case and review the clinical and cytogenetic aspects of this disorder. In addition we discuss new findings pertaining to the histopathology of the akin lesions.
Original language | English (US) |
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Pages (from-to) | 26-30 |
Number of pages | 5 |
Journal | Pediatric Dermatology |
Volume | 14 |
Issue number | 1 |
DOIs | |
State | Published - Jan 1 1997 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Dermatology