Literature DB >> 3792843

Pigment distribution in Waardenburg's syndrome: a new hypothesis.

T M Nork, Z M Shihab, R S Young, J Price.   

Abstract

Two cases of Waardenburg's syndrome are presented. The first case is an example of Waardenburg's type II (without dystopia canthorum) with bilateral sectoral iris heterochromia and fundus bicolor, hyperpigmented skin patches, characteristic facies and deafness. The second case is an example of Waardenburg's type I (with dystopia canthorum) with complete iris heterochromia and characteristic facies. Bilateral glaucoma was also present in the second case. Previously unrecognized details of iris architecture in Waardenburg's syndrome are described. Pigmentation anomalies of the skin are also discussed. It is hypothesized that the ocular pigmentary disturbance in Waardenburg's syndrome is widespread and involves the hyperchromic as well as the hypochromic areas of the eyes. A possible association with glaucoma might be explained by such a hypothesis.

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Year:  1986        PMID: 3792843     DOI: 10.1007/bf02154734

Source DB:  PubMed          Journal:  Graefes Arch Clin Exp Ophthalmol        ISSN: 0721-832X            Impact factor:   3.117


  16 in total

1.  Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects.

Authors:  A M DIGEORGE; R W OLMSTED; R D HARLEY
Journal:  J Pediatr       Date:  1960-11       Impact factor: 4.406

2.  Deafness as part of an hereditary syndrome.

Authors:  L FISCH
Journal:  J Laryngol Otol       Date:  1959-06       Impact factor: 1.469

3.  A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

4.  Waardenburg's syndrome with fundus and other anomalies.

Authors:  M F Goldberg
Journal:  Arch Ophthalmol       Date:  1966-12

5.  Benign melanocytic glaucoma complicating oculodermal melanocytosis.

Authors:  D I Weiss; D L Krohn
Journal:  Ann Ophthalmol       Date:  1971-09

6.  Heterogeneity of Waardenburg syndrome in Kenyan Africans.

Authors:  M J Hageman
Journal:  Metab Pediatr Ophthalmol       Date:  1980

7.  Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism.

Authors:  L A Bard
Journal:  Arch Ophthalmol       Date:  1978-07

8.  Pigmentary disorders in association with congenital deafness.

Authors:  W B Reed; V M Stone; E Boder; L Ziprkowski
Journal:  Arch Dermatol       Date:  1967-02

9.  WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION.

Authors:  M W PARTINGTON
Journal:  Can Med Assoc J       Date:  1964-04-25       Impact factor: 8.262

10.  Ophthalmological findings in 34 patients with Waardenburg syndrome.

Authors:  J W Delleman; M J Hageman
Journal:  J Pediatr Ophthalmol Strabismus       Date:  1978 Nov-Dec       Impact factor: 1.402

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  3 in total

1.  Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.

Authors:  Ali Akal; Tugba Göncü; Nurefsan Boyaci; Ömer Faruk Yılmaz
Journal:  BMJ Case Rep       Date:  2013-12-18

2.  Asymmetric severity of diabetic retinopathy in Waardenburg syndrome.

Authors:  Tomoyuki Kashima; Hideo Akiyama; Shoji Kishi
Journal:  Clin Ophthalmol       Date:  2011-12-07

3.  Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.

Authors:  Li Zhang; Yue Wan; Ningli Wang
Journal:  J Med Case Rep       Date:  2022-07-06
  3 in total

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