Kabuki make-up syndrome and report of a case with hydrocephalus.

TitleKabuki make-up syndrome and report of a case with hydrocephalus.
Publication TypeJournal Article
Year of Publication1998
AuthorsKasuya H, Shimizu T, Nakamura S, Takakura K
JournalChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Date Published1998 Jun

We report a 22-year-old man with hydrocephalusi caused by aqueductal stenosisi. The patient was diagnosed with Kabuki make-up syndrome based on associated findings such as a peculiar faciesi, postnatal growth deficiency, brachydactylyi of the fifth fingers, undescended testes, and malrotation of the colon. Kabuki make-up syndrome, recognized in Japan in 1981, is characterized by five cardinali manifestations: a peculiar facies, skeletal anomalies, dermatoglyphic anomalies, slight to moderate mental retardation, and postnatal dwarfism. Neurological anomalies have been reported to include neonatal hypotonia, feeding problems, seizures, West syndromei, microcephalyi, brain atrophyi, GH deficiency, precocious pubertyi, delayed sexual development, and diabetes insipidusi. Aqueductal stenosis may be caused by part of the series of midline anomalies. Physicians should pay attention to associated anomalous characteristics suggesting a malformation syndrome when they encounter nontumoral aqueductal stenosis in adolescents or adults.

Alternate JournalChilds Nerv Syst
Citation Key9694334