Waardenburg syndrome: Clinical differentiation between types I and II

American Journal of Medical Genetics

Volumn 117 A, Issue 3, 2003, Pages 223-235

  Pardono, Eliete ^a   Van Bever, Yolande ^a   Van den Ende, Jenneke ^a   Havrenne, Poti C ^a   Iughetti, Paula ^a   Maestrelli, Sylvia R P ^a,b   Costa, F Orozimbo ^a   Richieri Costa, Antonio ^a   Frota Pessoa, Oswaldo ^a   Otto, Paulo A ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF SANTA CATARINA   (Brazil)

Author keywords

Discriminant analysis; Genetic heterogeneity; Waardenburg syndrome

Indexed keywords

AGE DISTRIBUTION; ALBINISM; ARTICLE; BRAZIL; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CRANIOFACIAL MORPHOLOGY; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DISCRIMINANT ANALYSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; FAMILIAL DISEASE; FAMILY; FEMALE; GENEALOGY; GENETIC HETEROGENEITY; HEARING IMPAIRMENT; HUMAN; INFERIOR LACRIMAL DYSTOPIA; IRIS DISEASE; LITERATURE; MAJOR CLINICAL STUDY; MALE; MEASUREMENT; NASAL ROOT HYPERPLASIA; PRIORITY JOURNAL; PROBABILITY; RELATIVE; SEX; SKIN DISCOLORATION; SYNOPHRYS; TELECANTHUS; WAARDENBURG SYNDROME; WAARDENBURG SYNDROME TYPE I; WAARDENBURG SYNDROME TYPE II; CLASSIFICATION; FAMILY HEALTH; GENETICS; PATHOLOGY; PEDIGREE;

BRAZIL; DIAGNOSIS, DIFFERENTIAL; FAMILY HEALTH; FEMALE; HUMANS; MALE; PEDIGREE; PROBABILITY; WAARDENBURG'S SYNDROME;

EID: 0042821988     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10193     Document Type: Article

References (54)

1. Amini-Elihou S. 1970. Une famillle suisse atteinte du syndrome de Klein Waardenburg associé à une hyperkératose palmo-plantaire et à une oligophrénie grave. J Génét Hum 18:307-363.
2. Arias S. 1971. Genetic heterogeneity in the Waardenburg syndrome. Birth Defects 7(4):87-101.
3. Arias S, Mota M. 1978. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some hints on the diagnosis of dystopia canthorum. J Génét Hum 26(2):103-131.
4. Asher JJR, Friedman TB. 1990. Mouse and hamster mutants as models for Waardenburg syndrome in humans. J Med Genet 27:618-626.
5. Bard LA. 1978. Heterogeneity in Waardenburg's syndrome: Report of a family with ocular albinism. Arch Ophthal 96:1193-1198.
6. Bwibo NO, Mkono MD. 1970. Waardenburg's syndrome in an African child. Hum Hered 20:19-22.
7. Cant JS, Martin AJ. 1967. Waardenburg syndrome. Brit J Ophthal 51:755-759.
8. Char F. 1971. Cleft lip/palate in the Waardenburg syndrome. Birth Defects 7(7):258.
9. Chatkupt S, Johnson WG. 1993. Waardenburg syndrome and myelomeningocele in a family. J Med Genet 30:83-84.
10. Conde I, Quesada P. 1971. Un caso de sindrome de Waardenburg. Acta Otorinolaryngol Iber Amer 22:60-70.
11. Cotterman CW. 1951. Some statistical problems posed by Waardenburg's data on dystopia canthorum and associated anomalies. Am J Hum Genet 3:254-266.
12. David TJ. 1971. Waardenburg's syndrome in two siblings and their parents. Humangenetik 14:81-82.
13. De Saxe M, Kromberg JG, Jenkins T. 1984. Waardenburg syndrome in South Africa. S Afr Med J 66(8):291-293.
14. DiGeorge AM, Olmsted RW, Harley RD. 1960. Waardenburg's syndrome. J Pediatr 57:649-669.
15. Dodinval P, Lhussier-Grodos TM. 1981. Syndrome de Waardenburg (type II) chez deux enfants, sans atteinte parentale: Conseil génétique. J Génét Hum 29:273-284.
16. Fanaroff AA, Levin SE. 1968. Waardenburg's syndrome. J Pediatr 73(1):151-153.
17. Farrer LA, Arnos KS, et al. 1994. Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes. Am J Hum Genet 55:728-737.
18. Farrer LA, Grundfast KM, et al. 1992. Waardenburg syndrome (WS) type 1 is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am J Hum Genet 50:902-913.
19. Feingold M, Robinson MJ, Gellis SS. 1967. Waardenburg's syndrome during the first year of life. J Pediatr 71:874-875.
20. Foy C, Newton VE, Wellesley D, Harris R, Read AP. 1990. Assignment of WS1 locus to human 2q37 and possible homology between Waardenburg syndrome and the Splotch mouse. Am J Hum Genet 46:1017-1023.
21. Goldberg MF. 1966. Waardenburg's syndrome with fundus and other anomalies. Arch Ophthal 76:797-809.
22. Goodman RM, Oelsner G, Berkenstadt M, Admon D. 1988. Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: A possible clue to the embryological defects. J Med Genet 25:355-357.
23. Hageman MJ, Delleman JW. 1977. Heterogeneity in Waardenburg syndrome. Am J Hum Genet 29:468-485.
24. Hol FA, Hamel BC, Geurds MP, Mullaart RA, Barr FG, Macina RA, Mariman EC. 1995. A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome. J Med Genet 32:52-56.
25. Ishikiriyama S, Tonoki H, Shibuya Y. 1989. Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3). Am J Med Genet 33:505-507.
26. Jensen J. 1967. Tomography of the inner ear in a case of Waardenburg syndrome. Am J Roentgenol Radium Ther Nucl Med p 828-833.
27. Kapur S, Karam S. 1991. Germ-line mosaicism in Waardenburg syndrome. Clin Genet 39:194-198.
28. Karn MN, Penrose LS. 1951. Birth weight and gestation time in relation to maternal age, parity, and infant survival. Ann Eugen 16:147-164.
29. Lalwani AK, Brister JR, Fex J, Grudfast KM, Ploplis B, San Augustin TB, Wilcox ER. 1995. Further elucidation of the genomic struture of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type I in two families. Am J Hum Genet 56:75-83.
30. Liu XZ, Newton VE, Read AP. 1995. Waardenburg syndrome type 2: Phenotypic findings and diagnostic criteria. Am J Med Genet 55:95-100.
31. Mallardi A, Calzaretti M. 1971. Sindrome di Waardenburg: Nota clinica su due casi. Minerva Pediatr p 1560-1561.
32. McDonald R, Harrison VC. 1965. The Waardenburg syndrome. Clin Pediatr 4:739-744.
33. Murdoch JL, Mengel MC. 1971. An unusual eye-ear syndrome with renal abnormality. Birth Defects 7(4): p 136.
34. Narod SA, Siegel-Bartelt J, Hoffman HJ. 1988. Cerebellar infarction in a patient with Waardenburg syndrome. Am J Med Genet 31:903-907.
35. Oliveira HM, Garcia FN. 1968. Síndrome de Waardenburg. Rev Bras Oftalmol 27:15-23.
36. Pantke OA, Cohen MM. 1971. The Waardenburg syndrome. Birth Defects 7(7):147-152.
37. Parry DM, Safyer AW. 1978. Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma. J Med Genet 15:67-69.
38. Partington MW. 1964. Waardenburg's syndrome and heterochomia iridum in a deaf school population. Can Med Assoc J 90:1008-1017.
39. Penchaszadeh VB, Char F. 1971. The Waardenburg syndrome in a kindred showing a "skipped" generation. Birth Defects 7(4):129-130.
40. Penrose LS. 1947. Some notes on discrimination. Ann Eugen 13:228-237.
41. Pryor HB. 1971. A case of Waardenburg's syndrome. Am J Dis Child 122:177-178.
42. Rappoport AS. 1970. A coloured family showing features of Waardenburg syndrome. S Afr Med J 4:412-413.
43. Reed WB, Stone VM, Boder E, Ziprkowski L. 1967. Hereditary syndrome with auditory and dermatological manifestation. Arch Derm 95:176-186.
44. Roux C, Baheux G, Gaulier M, Caldera R, Soepardan L. 1970. Le syndrome de Waardenburg: Une observation familiale portant sur quatre générations et vingt-trois sujets. Ann Genet 13:125-128.
45. Silva EO. 1991. Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review. Am J Med Genet 40:65-74.
46. Silva EO, Batista JEM. 1994. Craniofacial disproportions in Waardenburg syndrome type I. Rev Bras Genét 17:97-99.
47. Silva EO, Batista JEM, Medeiros MAB, Fonteles SMS. 1993. Craniofacial anthropometric studies in Waardenburg syndrome type I. Clin Genet 44:20-25.
48. Smith CAB. 1947. Some examples of discrimination. Ann Eugen 13:272-282.
49. Smith CAB. 1969. Biomathematics, Vol 2. London: Griffin. 682 p.
50. Univelli A, Silenzi M. 1969. Hypertelorism and Waardenburg's syndrome. Helv Paediatr Acta 1:123-126.
51. Viswanathan B. 1973. Waardenburg's syndrome. Practitioner 211:785-789.
52. Waardenburg PJ. 1951. 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. Am J Hum Genet 3:195-253.
53. Winship I, Beighton P. 1992. Phenotypic discriminants in the Waardenburg syndrome. Clin Genet 41:181-188.
54. Zar JH. 1999. Biostatistical analysis. 4th Edition. Prentice-Hall Inc.: Upper Saddle River. 663 p.