Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients?

Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima et al. · The Journal of Pediatrics · 1981 · 544 citations

Medicine, Human Development, Pediatrics +15

A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

Yoshikazu Kuroki, Yasuyuki Suzuki, Hiroyuki Chyo et al. · The Journal of Pediatrics · 1981 · 461 citations

Medicine, Pediatrics, Human Genetics +11

Patterns of malformation in children with congenital diaphragmatic defects

Christopher Cunniff, Kenneth Lyons Jones, Marilyn C. Jones · The Journal of Pediatrics · 1990 · 122 citations

Medicine, Child Health, Pediatrics +7

Kabuki make-up (Niikawa-Kuroki) syndrome

N. Philip, Peter Meinecke, Allou Konan David et al. · Clinical Dysmorphology · 1992 · 107 citations

Medicine, Genetics, Craniofacial Growth +7

Thirteen cases of Niikawa-Kuroki Syndrome: Report and review with emphasis on medical complications and preventive management

Golder N. Wilson · American Journal of Medical Genetics · 1998 · 76 citations

Medicine, Neurology, Neurotology +12