Growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia: Confirmation of the ROCA-Wiedemann syndrome

We report on a girl with growth and mental retardation, peculiar face with ptosis, epicanthus, broad nasal bridge, low-set and abnormal ears, cleft uv ula, congenital heart defect, and anal atresia, A similar condition was rep orted previously by Wiedemann et al, [1982: An atlas of characteristic synd romes: a visual aid to diagnosis, 2nd ed. p 114-115], We confirm the existe nce of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal cli nical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia). (C) 2000 Wiley-Liss, Inc.