COSTELLO SYNDROME - FURTHER CLINICAL DELINEATION, NATURAL-HISTORY, GENETIC DEFINITION, AND NOSOLOGY

In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appeara nce, and nasal papillomata, suggesting the existence of a previously u ndescribed syndrome of uncertain familial nature [Costello, Aust Paedi atr J 13: 114-118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional report s by Der Kaloustian et al. [Am J Med Genet 43:678-685, 1991] and Marti n and Jones [Am J Med Genet 41:346-349, 1991]. More recently Borochowi tz et al. [Am J Med Genet 43:678-685,1992] described a new '' multiple congenital anomalies/mental retardation syndrome with facio-cutaneous -skeletal involvement.'' Whether this condition should be considered s eparately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic cr iteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely au tosomal recessive. (C) 1993 Wiley-Liss, Inc.