Literature DB >> 9987771

The oculocerebrocutaneous (Delleman-Oorthuys) syndrome.

G G Naafs1, A M van der Vliet, J M Hew.   

Abstract

We describe two cases of the so-called oculocerebrocutaneous syndrome, also known as the Delleman-Oorthuys syndrome. Both patients had characteristic congenital anomalies of the orbit, central nervous system and skin. The ocular and cerebral lesions were studied with CT and MRI.

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Year:  1999        PMID: 9987771     DOI: 10.1007/s002340050706

Source DB:  PubMed          Journal:  Neuroradiology        ISSN: 0028-3940            Impact factor:   2.804


  3 in total

1.  Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype.

Authors:  U Moog; M C Jones; L M Bird; W B Dobyns
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

2.  Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients.

Authors:  Maria Leine Guion-Almeida; Siulan Vendramini-Pittoli; Antonio Richieri-Costa
Journal:  Clin Ophthalmol       Date:  2007-06

3.  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
  3 in total

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