Microcephaly, focal segmental glomerulonephritis and marfanoid habitus in two sibs.
Two female sibs aged 15 and 18 years with microcephaly, mental retardation and marfanoid habitus who developed focal segmental glomerulonephritis leading to renal failure are described. This combination of features appears to represent a unique syndrome distinct from previous reports of microcephaly in association with the nephrotic syndrome. The mode of inheritance is likely to be autosomal recessive.
Houlston
R S
RS
Department of Clinical Genetics, Royal Free Hospital School of Medicine, Hampstead, London, UK.
Iraggori
S
S
Murday
V
V
Scrine
M
M
Macdermot
K
K
Slack
J
J
Rees
L
L
D000293:Adolescent; D005260:Female; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000235:genetics; D008382:Marfan Syndrome / Q000235:genetics; D008831:Microcephaly / Q000235:genetics