Literature DB >> 2707277

Oculo-cerebro-cutaneous syndrome: description of a new case.

P L Giorgi1, O Gabrielli, C Catassi, G V Coppa.   

Abstract

A newborn girl is described with the following multiple congenital anomalies: an orbital cyst, cutaneous appendages, focal hypo-aplasia of the skin and multiple cerebral cysts. This case of oculo-cerebro-cutaneous syndrome is compared with four previously published cases.

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Year:  1989        PMID： 2707277     DOI： 10.1007/BF00444125

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  3 in total

1.  Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity?

Authors:  J W Delleman; J W Oorthuys
Journal:  Clin Genet       Date:  1981-03       Impact factor: 4.438

2.  Orbital cyst in addition to congenital cerebral and focal dermal malformations: a new entity.

Authors:  J W Delleman; J W Oorthuys; E M Bleeker-Wagemakers; B G ter Haar; J W Ferguson
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438

3.  Ocular, cerebral and cutaneous malformations: confirmation of an association.

Authors:  J W Ferguson; H T Hutchison; B M Rouse
Journal:  Clin Genet       Date:  1984-05       Impact factor: 4.438
  3 in total
  2 in total

Review 1.  Oculocerebrocutaneous syndrome.

Authors:  L M Bleeker-Wagemakers; B C Hamel; R C Hennekam; F A Beemer; H W Oorthuys
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

2.  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 in total

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