Waardenburg's syndrome

DiGeorge, Angelo M.; Olmsted, Richard W.; Hårley, Robison D.

doi:10.1016/s0022-3476(60)80159-x

Cited by 85 publications

(62 citation statements)

References 7 publications

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“…The overall frequency of 5.4% of WS in this population is slightly higher than those observed in other countries or in preliminary studies in Colombia, with the exception of the Turkish deaf population (6.8%) [Waardenburg, 1951;DiGeorge et al, 1960;Hageman and Delleman, 1977;Sellars and Beighton, 1983;Baldwin et al, 1995;Silan et al, 2006] perhaps because our study was aimed at identifying cases with this condition. The frequencies of the different types of the syndrome are also quite variable.…”

Section: Discussioncontrasting

confidence: 52%

“…The frequency of WS among institutionalized individuals with congenital deafness, has been reported by several authors to be between 0.9% and 3% [Waardenburg, 1951;DiGeorge et al, 1960;Partington, 1964;Reed et al, 1967;Hageman and Delleman, 1977;Sellars and Beighton, 1983]. In Colombia, we reported a preliminary frequency of 2.16% among 1,715 deaf individuals [Tamayo et al, , 2000b.…”

Section: Introductionsupporting

confidence: 48%

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Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

Tamayo

Gélvez

Rodríguez

et al. 2008

American J of Med Genetics Pt A

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A screening program to detect Waardenburg syndrome (WS) conducted between 2002 and 2005, among 1,763 deaf individuals throughout Columbia identified 95 affected individuals belonging to 95 families, giving a frequency of 5.38% of WS among the institutionalized deaf population. We confirmed the clinical diagnosis of WS in the 95 propositi and, through the family evaluation, we also identified 45 non-institutionalized affected relatives. Audiologic, ophthalmologic, and genetic studies were performed to confirm the diagnosis. Following the classification of the WS consortium, based on the Waardenburg Index (WI), to define the type of WS. We classified 62.1% of the propositi as WS2 and 37.9% as WS1. We present here the results of the study of clinical manifestations, analyzing the presence, severity, and symmetry of clinical findings among this affected population. Overall, among the 95 propositi, in addition to sensorineural deafness in all, the most frequent features were broad nasal root (58.9%), a first degree relative affected (37.9%), heterochromia irides (36.8%), skin hypopigmentation (31.6%), white forelock (28.0%), intense blue iris (27.4%), synophrys (12.6%), premature graying (10.5%), ptosis of the eyelids (9.5%), and hypoplasia alae nasi (1.1%). The majority of individuals had normal psychomotor development (87%), while the remaining 13% had developmental delay. Among the latter, 9.4% corresponded to WS2 and 3.6% to WS1. Our data confirm an interesting inter- and intrafamilial variability in the phenotypic manifestations as well as extremely variable expression.

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Section: Discussioncontrasting

confidence: 52%

Section: Introductionsupporting

confidence: 48%

Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

Tamayo

Gélvez

Rodríguez

et al. 2008

American J of Med Genetics Pt A

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“…This mutation leads to aberrantly spliced mRNA, which has been reported to result in nonfunctional Pax3 polypeptides (15). In addition to Sp, there are eight known mutations at the murine Pax3 locus (26 (33,34), and homozygotes for these PAX3 mutations are postulated to have a higher incidence of NTDs (35).…”

mentioning

confidence: 99%

Diabetic Embryopathy in C57BL/6J Mice

et al. 2001

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Maternal diabetes (types 1 and 2) induces a broad array of congenital malformations, including neural tube defects (NTDs), in humans. One of the difficulties associated with studying diabetic embryopathy is the rarity of individual malformations. In an attempt to develop a sensitive animal model for maternal diabetes-induced NTDs, the present study uses chemically induced diabetes in an inbred mouse model with or without the splotch (Sp) mutation, a putatively nonfunctional allele of Pax3. Pax3 deficiency has been associated with an increase in NTDs. Female C57BL/6J mice, either with or without the Sp allele, were injected intravenously with alloxan (100 mg/kg), and plasma glucose was measured 3 days later. A wide range of hyperglycemia was induced, and these diabetic mice were bred to C57BL/6J males, some carrying the Sp allele. Gestational-day-18 fetuses were examined for developmental malformations. Fetuses from matings in which either parent carried the Sp allele were genotyped by polymerase chain reaction. Maternal diabetes significantly decreased fetal weight and increased the number of resorptions and malformations, including NTDs. A significant correlation was found between the level of maternal hyperglycemia and the malformation rate. The sex ratio for live fetuses in diabetic litters was significantly skewed toward male fetuses. Matings involving the Sp allele yielded litters with significantly higher percentages of maternal diabetes-induced spina bifida aperta but not exencephaly, and this increase was shown to be associated with the presence of a single copy of the Sp allele in affected fetuses. Thus, Pax3 haploinsufficiency in this murine model of diabetic embryopathy is associated with caudal but not cranial NTDs.

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“…Since the first description of Waardenburg, certain aspects of the syndrome have also been reported by other authors [6,7], Meanwhile, other authors, as previously mentioned, described the syndrome with as sociated anomalies. Klein [2] described a fe male patient with telacanthus, synophrys, partial albinismus of the skin and hair, blue irides and associated osseous dysplasia that included also syndactyly.…”

Section: Discussionmentioning

confidence: 65%

Waardenburg Syndrome with Associated Multiple Anomalies

Zelig

Deutsch

Eilon

1984

ORL

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A 4½-year-old girl presenting characteristics of Waardenburg’s syndrome with associated multiple defects is described. The patient presents all the obvious signs of the syndrome with the exception of the white forelock (poliosis), but with additional anomalies like: syndactyly, absence of the fourth left toe, bilateral preauricular sinus and dacrocystitis. It is the second case of Waardenburg’s syndrome reported by us during the last 20 years.

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Waardenburg's syndrome

Cited by 85 publications

References 7 publications

Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

Diabetic Embryopathy in C57BL/6J Mice

Waardenburg Syndrome with Associated Multiple Anomalies

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