Literature DB >> 19073332

Case report: two patients with oculocerebrocutaneous syndrome and terminal digital amputations.

Nathan G Asher1, Ann H Olney, G Bradley Schaefer.   

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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Year:  2008        PMID: 19073332     DOI: 10.1016/j.spen.2008.10.015

Source DB:  PubMed          Journal:  Semin Pediatr Neurol        ISSN: 1071-9091            Impact factor:   1.636


  1 in total

1.  Delleman-Oorthuys syndrome (oculocerebrocutaneous syndrome) in a Nigerian child: a case report.

Authors:  Oluwakemi A Badejo; Oluyemi Fasina; James A Balogun; John O Ogunbiyi; Matthew T Shokunbi
Journal:  Ther Adv Ophthalmol       Date:  2018-12-27
  1 in total

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