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Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputations
Nathan G Asher1, Ann H Olney, G Bradley Schaefer
1Department of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
Seminars in Pediatric Neurology
|December 17, 2008
Abstract:
We report 2 cases of patients with a rare multiple anomaly condition reported as Dellman (oculocerebrocutaneous) syndrome. In this article we discuss the clinical features and genetics of this condition. Notably, both of these patients have digital abnormalities which have not been previously described in the literature.
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