β Scribed by Zampino, Giuseppe; Balducci, Francesca; Mariotti, Paolo; Dickmann, Anna; Mastroiacovo, Pierpaolo
No coin nor oath required. For personal study only.
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,
π SIMILAR VOLUMES
The Stu Β¨ve-Wiedemann syndrome (SWS) comprises short stature, congenital bowing of the long bones, respiratory distress, and recurrent episodes of unexplained hyperthermia. The skeletal radiographic changes include short and broad long bones, large metaphyses, internal cortical thickening, and angul
We present a patient with distinctive clinical manifestations resembling those first described by Pitt and Hopkins in 1978 [
We describe a patient with microcephaly, developmental delay, and nephrotic syndrome who had normal renal function and normal brain imaging studies. She does not have the Galloway-Mowat syndrome. The concurrence of nephrotic syndrome with microcephaly and developmental delay may be coincidental, or
The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At leas