Rubinstein-Taybi syndrome associated with Dandy-Walker cyst. Case report in a newborn.
Rubinstein-Taybi is a rare malformative syndrome characterized by dysmorphic features and mental retardation. Early diagnosis in neonatal age can be facilitated by the presence of characteristic broadening of the distal phalanges of thumbs and great toes. Most of the cases are sporadic. Associated malformations such as bone anomalies, heart malformations, cell immunity deficits and metabolic alterations have been observed. This paper reports the first case of Rubinstein-Taybi syndrome associated with Dandy-Walker type cerebral malformation diagnosed in the neonatal period.
Mazzone
D
D
Pediatric Clinic II, Catania University, Italy.
Milana
A
A
Praticò
G
G
Reitano
G
G
D000015:Abnormalities, Multiple; D003616:Dandy-Walker Syndrome / Q000150:complications* / Q000175:diagnosis; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000150:complications*; D007231:Infant, Newborn; D012415:Rubinstein-Taybi Syndrome / Q000150:complications* / Q000175:diagnosis