Rowley-Rosenberg Syndrome

Rowley et al. (1961) described a 'new' syndrome in 3 of 6 children. Features were growth retardation, poor muscular development, scanty adipose tissue, recurrent pulmonary infection, atelectasis, and right ventricular hypertrophy. One survivor had amino aciduria without elevation of serum amino acids and increased plasma unesterified fatty acid concentration (Rosenberg et al., 1961). The affected sibs were 2 boys and a girl. The disorder is sometimes referred to as the 'Busby syndrome,' for the surname of the affected family.