Literature DB >> 14166458

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

M W PARTINGTON.   

Abstract

Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a dominant, but affected individuals do not necessarily have all of the characteristics cited.Five hundred and fourteen pupils at a school for the deaf were screened for features of this syndrome. Three cases were discovered. Eleven other deaf children were found to have heterochromia iridum and two more had white forelocks. The interocular dimensions of the remaining children were recorded as standards by which to judge the presence of dystopia canthorum. The results of chromosomal analysis in two cases with Waardenburg's syndrome were normal.The findings provide further evidence that Waardenburg's syndrome is a distinct entity and call in question Mackenzie's concept of a comprehensive "first arch syndrome".

Entities:  

Keywords:  ADOLESCENCE; CANADA; CAUCASIAN RACE; CHILD; DEAFNESS; EYELIDS; GENETICS, HUMAN; HAIR; INFANT; INFANT, NEWBORN; IRIS; NEGROES; OPHTHALMOLOGY; PIGMENTATION DISORDERS; QUININE; TOXICOLOGIC REPORT; WAARDENBURG'S SYNDROME

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Substances:

Year:  1964        PMID: 14166458      PMCID: PMC1922684     

Source DB:  PubMed          Journal:  Can Med Assoc J        ISSN: 0008-4409            Impact factor:   8.262


  9 in total

1.  Waardenbrug's syndrome. A variation of the first arch syndrome.

Authors:  B CAMPBELL; N R CAMPBELL
Journal:  Arch Dermatol       Date:  1962-12

2.  Waardenburg's syndrome.

Authors:  J CALINIKOS
Journal:  J Laryngol Otol       Date:  1963-01       Impact factor: 1.469

3.  Syndrome of Waardenburg with deafness.

Authors:  S ZELIG
Journal:  Laryngoscope       Date:  1961-01       Impact factor: 3.325

4.  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

5.  Deafness as part of an hereditary syndrome.

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

6.  The effects of drugs on the foetus.

Authors:  J B BAKER
Journal:  Pharmacol Rev       Date:  1960-03       Impact factor: 25.468

7.  The first arch syndrome.

Authors:  J McKENZIE
Journal:  Arch Dis Child       Date:  1958-10       Impact factor: 3.791

8.  [Deaf-mutism with Waardenburg-Klein syndrome in children].

Authors:  L S WILDERVANCK
Journal:  Ned Tijdschr Geneeskd       Date:  1957-06-15

9.  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

  9 in total
  9 in total

Review 1.  The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Authors:  R Morell; T B Friedman; J H Asher; L G Robbins
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

2.  Waardenburg syndrome (WS): the analysis of a single family with a WS1 mutation showing linkage to RFLP markers on human chromosome 2q.

Authors:  J H Asher; R Morell; T B Friedman
Journal:  Am J Hum Genet       Date:  1991-01       Impact factor: 11.025

3.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

4.  Waardenburg's syndrome. Report of a family.

Authors:  J S Cant; A J Martin
Journal:  Br J Ophthalmol       Date:  1967-11       Impact factor: 4.638

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

Authors:  T M Nork; Z M Shihab; R S Young; J Price
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1986       Impact factor: 3.117

Review 6.  Heterogeneity in Waardenburg syndrome.

Authors:  M J Hageman; J W Delleman
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025

7.  Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Authors:  L A Farrer; K M Grundfast; J Amos; K S Arnos; J H Asher; P Beighton; S R Diehl; J Fex; C Foy; T B Friedman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

8.  Waardenburg's memorial lecture: Waardenburg's syndrome.

Authors:  J François
Journal:  Int Ophthalmol       Date:  1982-05       Impact factor: 2.031

9.  Corpus callosotomy for drug-resistant epilepsy in a pediatric patient with Waardenburg syndrome Type I.

Authors:  Takafumi Shimogawa; Nobutaka Mukae; Takato Morioka; Ayumi Sakata; Yasunari Sakai; Nozomu Matsumoto; Masahiro Mizoguchi
Journal:  Surg Neurol Int       Date:  2021-05-10
  9 in total

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