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[Atypical manifestations in familial type 1 Waardenburg syndrome].
Ann Dermatol Venereol. 1998 Jan; 125(1):37-41.AD

Abstract

BACKGROUND

Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively).

CASE REPORT

We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading.

DISCUSSION

This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

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Publisher Full Text

Authors+Show Affiliations

Sans B
Service de Dermatologie, Hôpital de Castres, Maréchal Foch.
Calvas P
No affiliation info available
Bazex J
No affiliation info available

MeSH

AdultChromosomes, Human, Pair 2ConsanguinityDNA-Binding ProteinsDiagnosis, DifferentialFemaleFrameshift MutationGenetic HeterogeneityHumansHypopigmentationMaleOptic NeuritisPedigreeUveomeningoencephalitic SyndromeWaardenburg Syndrome

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

9747206

Citation

Sans, B, et al. "[Atypical Manifestations in Familial Type 1 Waardenburg Syndrome]." Annales De Dermatologie Et De Venereologie, vol. 125, no. 1, 1998, pp. 37-41.
Sans B, Calvas P, Bazex J. [Atypical manifestations in familial type 1 Waardenburg syndrome]. Ann Dermatol Venereol. 1998;125(1):37-41.
Sans, B., Calvas, P., & Bazex, J. (1998). [Atypical manifestations in familial type 1 Waardenburg syndrome]. Annales De Dermatologie Et De Venereologie, 125(1), 37-41.
Sans B, Calvas P, Bazex J. [Atypical Manifestations in Familial Type 1 Waardenburg Syndrome]. Ann Dermatol Venereol. 1998;125(1):37-41. PubMed PMID: 9747206.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Atypical manifestations in familial type 1 Waardenburg syndrome]. AU - Sans,B, AU - Calvas,P, AU - Bazex,J, PY - 1998/9/25/pubmed PY - 1998/9/25/medline PY - 1998/9/25/entrez SP - 37 EP - 41 JF - Annales de dermatologie et de venereologie JO - Ann Dermatol Venereol VL - 125 IS - 1 N2 - BACKGROUND: Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). CASE REPORT: We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. DISCUSSION: This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome. SN - 0151-9638 UR - https://www.unboundmedicine.com/medline/citation/9747206/[Atypical_manifestations_in_familial_type_1_Waardenburg_syndrome]_ L2 - http://www.em-consulte.com/retrieve/pii/MDOI-AD-01-1998-125-1-0151-9638-101019-ART56 DB - PRIME DP - Unbound Medicine ER -