Literature DB >> 200206

Ocular manifestations of focal dermal hypoplasia syndrome.

J V Thomas, M O Yoshizumi, C K Beyer, J L Craft, D M Albert.   

Abstract

Although 40 percent of patients with the focal dermal hypoplasia syndrome have ocular abnormalities, to our knowledge, only one case of this condition has been previously described in the ophthalmic literature. Two additional cases are presented, and the systemic and ocular findings are reviewed.

Entities:  

Mesh：

Year:  1977        PMID： 200206     DOI： 10.1001/archopht.1977.04450110091009

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


  6 in total

1.  Novel mutation in a child with Goltz syndrome.

Authors:  Seema Kapoor; Vidyabrata Ghosh; John A McGrath; Atul Mohan Kochar; Harit Kapoor; Reetika Malik
Journal:  Indian J Pediatr       Date:  2011-07-06       Impact factor: 1.967

2.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 3.  Genetics of microphthalmos.

Authors:  M Warburg
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

4.  Ophthalmologic findings in an 18-month-old boy with focal dermal hypoplasia.

Authors:  Marielle P Young; Briana L Sawyer; M Elizabeth Hartnett
Journal:  J AAPOS       Date:  2014-04       Impact factor: 1.220

5.  Goltz syndrome: Primary diagnosis by an ophthalmologist.

Authors:  Ekta Rishi; Preet Sodhi; Meenakshi Swaminathan; Pukhraj Rishi
Journal:  Indian J Ophthalmol       Date:  2019-09       Impact factor: 1.848

6.  Neonatal Onset Glaucoma in a Case with Gorlin-Goltz Syndrome: An Unusual Association.

Authors:  A B Tefon Arıbaş; Zeynep Aktaş; Şengül Özdek
Journal:  J Curr Glaucoma Pract       Date:  2021 May-Aug
  6 in total

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