Literature DB >> 6426831

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

J W Ferguson, H T Hutchison, B M Rouse.   

Abstract

A newborn with multiple congenital abnormalities including an orbital cyst, cerebral cysts, skin tags and focal dermal defects is described. This case is similar to two patients reported by Delleman & Oorthuys in 1981 under the designation "Oculo-cerebro-cutaneous syndrome." Features common to other syndromes are discussed and additional cases with some similarities are also presented. The occurrence of this process in a new population and the cited variability helps confirm and define this association.

Entities:  

Mesh:

Year:  1984        PMID: 6426831     DOI: 10.1111/j.1399-0004.1984.tb02018.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  9 in total

1.  Perianal rhabdomyomatous mesenchymal hamartoma.

Authors:  K Sampat; E Cheesman; S Siminas
Journal:  Ann R Coll Surg Engl       Date:  2017-07       Impact factor: 1.891

2.  The oculocerebrocutaneous (Delleman) syndrome.

Authors:  L I al-Gazali; D Donnai; S A Berry; B Say; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

3.  From the inside out: oculocerebrocutaneous syndrome without dermatological manifestations.

Authors:  Flávia Sprenger; Gabriel Lucca de Oliveira Salvador; Giovanna Vinholi; Débora Brighente Bertholdo; Bernardo Corrêa de Almeida Teixeira
Journal:  Childs Nerv Syst       Date:  2021-09-29       Impact factor: 1.532

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

Authors:  P L Giorgi; O Gabrielli; C Catassi; G V Coppa
Journal:  Eur J Pediatr       Date:  1989-01       Impact factor: 3.183

Review 5.  Rhabdomyomatous mesenchymal hamartoma presenting as a skin tag in the sternoclavicular area.

Authors:  Araceli Solis-Coria; Roberto Vargas-González; Cirilo Sotelo-Avila
Journal:  Pathol Oncol Res       Date:  2007-12-25       Impact factor: 3.201

6.  Is it congenital cystic eye with dermal appendages and cerebral anomalies?

Authors:  V P Gupta; S N Bhattacharya; Pragati Gupta; Rigved Gupta
Journal:  Indian J Ophthalmol       Date:  2010 Sep-Oct       Impact factor: 1.848

7.  Delleman syndrome: a case report and review.

Authors:  R De Cock; A Merizian
Journal:  Br J Ophthalmol       Date:  1992-02       Impact factor: 4.638

8.  Rhabdomyomatous mesenchymal hamartoma presenting as a big subcutaneous mass on the neck: a case report.

Authors:  YuLan Wang; HaiHua Zhao; XinHua Yue; XinPing Tang; Li Ma; Yong Fu; PeiYi Zhang
Journal:  J Med Case Rep       Date:  2014-12-06

9.  Delleman Oorthuys syndrome: 'Oculocerebrocutaneous syndrome'.

Authors:  Vipul Arora; Usha R Kim; Hadi M Khazei
Journal:  Indian J Ophthalmol       Date:  2009 Sep-Oct       Impact factor: 1.848

  9 in total

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