Marfanoid Habitus With Microcephaly And Glomerulonephritis

Houlston et al. (1992) described 2 sisters with mental retardation, microcephaly, marfanoid habitus, and glomerulonephritis. Microcephaly, present at birth, was associated in both with prominent fourth ventricles by computerized tomographic scans, but no other cerebral anomalies. Both had relatively tall stature, highly arched palate, prognathism, arachnodactyly, and joint laxity. One also had dorsal kyphosis. In both, glomerulonephritis was diagnosed during the second decade. Mental retardation was moderate in severity (IQs 48 and 50). Renal failure necessitated dialysis and transplantation. The older sister was 18 years of age at the time of report.