Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
|Title||Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.|
|Publication Type||Journal Article|
|Year of Publication||1981|
|Authors||Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T|
|Journal||The Journal of pediatrics|
|Date Published||1981 Oct|
A previously unrecognized mental retardation malformation syndrome was observed in five unrelated Japanese children. Consistent clinical features included moderate-to-severe mental retardation, progressive dwarfism of postnatal onset, a peculiar faciesi characterized by long palpebral fissuresi, with eversioni of the laterali third of the lower eyelids, arched eyebrows, broad and depressed nasali tip, large prominent earlobes, short fifth fingers, abnormal dermatoglyphics including absence of digital triradius c or d, and frequent otitisi media in infancy. Inconsistent abnormalities included epicanthal folds, cleft or high-arched palate, widely spaced teeth, low occipitali hair line, scoliosisi, and dislocation of the hip joint. Neither familial occurrence nor parental consanguinityi was noted. The etiologyi of the malformation syndrome remains unknown.
|Alternate Journal||J. Pediatr.|