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 uvula, congenital heart defect, and anal atresia. A similar condition was reported previously by Wiedemann et al. [1982: An atlas of characteristic syndromes: a visual aid to diagnosis, 2nd ed. p 114-115]. We confirm the existence of this condition that, although similar to Ohdo syndrome, seems to be an independent clinical entity. We propose that, based on the principal clinical manifestations, this condition should be identified with the acronym ROCA (retardation of growth and development, ocular ptosis, cardiac defect, and anal atresia).
Zampino
G
G
Istituto di Pediatria, Rome, Università Cattolica, Italy. mc8682@mclink.it
Balducci
F
F
Mariotti
P
P
Dickmann
A
A
Mastroiacovo
P
P
D000015:Abnormalities, Multiple; D001006:Anus, Imperforate; D001763:Blepharoptosis; D005260:Female; D006130:Growth Disorders; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D013577:Syndrome