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ISSN 1561-3194 (Electronic)

2012, Number 3

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Rev Ciencias Médicas 2012; 16 (3)

Color of the iris and hypoacusis in Waardenburg Syndrome. Pinar del Rio, Cuba

Castro PF, Sanabria NJG, Menéndez GR, Iviricu TRJ, Santana OJ

Language: Spanish
References: 8
Page: 172-180
PDF size: 267.37 Kb.


ABSTRACT

Background: Waardenburg Syndrome (SW) is a rare inherited disorder characterized by varying degrees of disability, when sensorineural hearing loss appear and its clinical chart is not defi nitely complete.
Objective: to describe the clinical characteristics of a family suffering from this entity and the variables found.
Material and Method: observational, cross -sectional and descriptive case studies. An automated database was created, usin g the variables of clinical signs, including the classification of hypoacusis. Measures of frequency were employed: absolute and relative percentages as well as X2 test with 95% of confidence.
Results: out of the classical signs 100% showed dystopia canth orum, the rest appeared with variability. Observing signs not previously described, among them, a marked straight-nasal dorsum (65,4%). Hallux valgus was detected in 4 of the subjects; which allowed classifying them into: 19 of Type -I and the rest (7) in t he sub-variant-1 of Type -III.
Conclusions: the osseous alterations found in subjects suffering from SW allowed classifying them as sub -variant III-1 carriers, not previously described.


REFERENCES

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