Hernández-Gómez L, Juárez-García SG, Hernández-Gómez E

Language: Spanish
References: 3
Page: 36-39
PDF size: 357.18 Kb.

ABSTRACT

We report the case of a Mexican family with hearing loss, facial and cervical malformations. Various studies were conducted to establish an accurate clinical diagnosis.

REFERENCES

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2. Rickard S, Parker M, van’t Hoff W, Barnicoat A, Russell-Eggitt I, Winter RM, Bitner-Glindzicz M. Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. Hum Genet 2001; 108: 398-403.

3. Estefania E, Ramírez-Camacho R, Gomar M, Trinidad A, Arellano B, García-Berrocal JR y cols. Point Mutation of an EYA1-gene Splice Site in a Patient with Oto-facio-cervical Syndrome. Annals of Human Genetics 2005; 70: 140-4.