THE COSTELLO SYNDROME

In 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and dev elopmental retardation and nasal papillomata (Costello, NZ Med J 74:39 7, 1971; Costello, Aust Paediatr J 13:114-118, 1977). Subsequently, tw o similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69-73,1991; Martin and Jones, Am J Med Genet 41:346-349,1991). Cost ello syndrome is now a distinct entity. We describe another patient wh o additionally had hitherto unreported malformations, such as hydrocep halus, seizures, atrial fibrillation, and flutter with atrial septal d efect. Although no nasal lesions were found he had laryngeal papilloma ta associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was n ormal by gross and electron microscopic examination. (C) 1993 Wiley-Li ss, Inc.