New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two Brazilian patients.
We report on two sisters with cataracts and progressive sensorineural hearing loss, starting in infancy. They were born to consanguineous parents, and there were no similar cases in the family. To our knowledge this is the first report on this autosomal recessive condition. Clinical and genetic aspects are discussed.
De Vitto
L P
LP
Departamento de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Bauru, Brazil.
Costa
O A
OA
Bevilaqua
M C
MC
Passerotti
S
S
Richieri-Costa
A
A
D000293:Adolescent; D000328:Adult; D001938:Brazil; D002386:Cataract / Q000235:genetics / Q000473:pathology*; D002648:Child; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008875:Middle Aged; D013577:Syndrome