Literature DB >> 1739706

Delleman syndrome: a case report and review.

R De Cock1, A Merizian.   

Abstract

A case of oculocerebrocutaneous syndrome is presented, to our knowledge the first to be reported in West Bank and Gaza. The child was of consanguinous parents. The clinical features of orbital cyst, periorbital cutaneous malformations, and cerebral malformations are described, together with a brief review of previous reports. The need for neurological follow-up of these cases is emphasised.

Entities:  

Mesh：

Year:  1992        PMID： 1739706      PMCID： PMC504176          DOI： 10.1136/bjo.76.2.115

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


  9 in total

1.  Congenital microphthalmos with cyst formation.

Authors:  J LADENHEIM; S METRICK
Journal:  Am J Ophthalmol       Date:  1956-06       Impact factor: 5.258

2.  Focal dermal hypoplasia.

Authors:  G S Willetts
Journal:  Br J Ophthalmol       Date:  1974-06       Impact factor: 4.638

3.  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

4.  Clinicopathologic correlation of microphthalmos with cyst.

Authors:  G O Waring; A M Roth; M M Rodrigues
Journal:  Am J Ophthalmol       Date:  1976-11       Impact factor: 5.258

5.  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

6.  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

7.  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

8.  Oculocerebrocutaneous syndrome.

Authors:  R D Wilson; L Traverse; J G Hall; C O Flodmark; J Rootman
Journal:  Am J Ophthalmol       Date:  1985-02-15       Impact factor: 5.258

9.  Microphthalmos with cyst: clinical presentations and computed tomographic findings.

Authors:  A Weiss; C Martinez; M Greenwald
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1985 Jan-Feb       Impact factor: 1.402
  9 in total
  1 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
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.