0000000000183296
AUTHOR
A. Carcione
Le funzioni metacognitive nei pazienti con disturbi del comportamento alimentare. Uno studio sul trattamento psicodinamico di gruppo
contrast enhanced versus conventional ultrasonography in the characterization of benign focal hepatic lesions
Kabuki make-up (Niikawa-Kuroki) syndrome: Clinical and radiological observations in two sicilian children
The Authors describe two patients aged 5 and 8, a female and a male, affected by a condition of polymalformations known as Kabuki make-up or Niikawa-Kuroki syndrome, having a neonatal incidence of 1:32,000 in Japan. There are two hypothesis about the apparent rarity of the syndrome in the rest of the world, including the Asian Continent: the first is that it exists, but is infrequently recognized outside Japan and the second is that it is really more frequent in those parts of the world, where ethnic exchanges are uncommon, as it happens in Japan.
Cervico-Oculo-Acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?
A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethali…