X-linked recessive nephritis with mental retardation, sensorineural hearing loss, and macrocephaly.
A family with hereditary nephritis, sensorineural hearing loss, macrocephaly, and mental retardation is reported. X-linked recessive inheritance was suggested by the presence of two affected brothers and a maternal uncle. This association may be a previously unreported variant of Alport's syndrome.
Lane
W
W
Children's Hospital, Greenville Hospital System, South Carolina 29605-4253.
Robson
M
M
Lowry
R B
RB
Leung
A K
AK
D005808:Genes, Recessive; D008040:Genetic Linkage; D005921:Glomerulonephritis / Q000382:microbiology; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications / Q000235:genetics*; D012886:Skull / Q000002:abnormalities; D013290:Streptococcal Infections / Q000150:complications; D013297:Streptococcus pyogenes; D014960:X Chromosome / Q000235:genetics*