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)|
|Number of pages||5|
|State||Published - Jan 1 1997|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health