Literature DB >> 104624

Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome).

L M Wilcox, L Bercovitch, R O Howard.   

Abstract

By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.

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Year:  1978        PMID: 104624     DOI: 10.1016/0002-9394(78)90132-0

Source DB:  PubMed          Journal:  Am J Ophthalmol        ISSN: 0002-9394            Impact factor:   5.258


  8 in total

1.  [A rare form of optical, choroidal and retinal dysplasia combined with an occipital encephalocele].

Authors:  U Mayer; M Klinger; H D Rott
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

2.  Aniridia and mental retardation with deletion of the short arm of chromosome 11.

Authors:  M I Kaiser-Kupfer; B J White; N Papadopoulos
Journal:  Trans Am Ophthalmol Soc       Date:  1981

3.  4p- syndrome in a girl with translocation t(1;4)(q11;p16)mat.

Authors:  C Stoll; A Pennerath; C Lausecker
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome.

Authors:  I A Chisholm; A E Chudley
Journal:  Br J Ophthalmol       Date:  1983-08       Impact factor: 4.638

5.  Contribution of magnetic resonance imaging to the knowledge of CNS malformations related to chromosomal aberrations.

Authors:  J C Tamraz; M O Rethoré; M T Iba-Zizen; J Lejeune; E A Cabanis
Journal:  Hum Genet       Date:  1987-07       Impact factor: 4.132

Review 6.  Congenital cavitary optic disc anomaly and Axenfeld's anomaly in Wolf-Hirschhorn syndrome: A case report and review of the literature.

Authors:  Mohsin H Ali; Nathalie F Azar; Vinay Aakalu; Felix Y Chau; Javaneh Abbasian; Pete Setabutr; Irene H Maumenee
Journal:  Ophthalmic Genet       Date:  2017-12-04       Impact factor: 1.803

7.  Classification of chromosomal eye syndromes.

Authors:  R O Howard
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

Review 8.  Chromosome abnormalities and the genetics of congenital corneal opacification.

Authors:  A Mataftsi; L Islam; D Kelberman; J C Sowden; K K Nischal
Journal:  Mol Vis       Date:  2011-06-17       Impact factor: 2.367

  8 in total

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