A Japanese patient with Kabuki syndrome and unilateral perisylvian cortical dysplasia

Brain and Development

Volumn 33, Issue 2, 2011, Pages 174-176

  Yoshioka, Seiichiro ^a   Takano, Tomoyuki ^a   Matsuwake, Kumiko ^a   Sokoda, Tatsuyuki ^a   Takeuchi, Yoshihiro ^a  

^a SHIGA UNIVERSITY OF MEDICAL SCIENCE   (Japan)

Author keywords

Cortical dysplasia; Epilepsy; Kabuki syndrome; Sylvian fissure

Indexed keywords

ARTICLE; BRACHYDACTYLY; CASE REPORT; CHILD; CORTICAL DYSPLASIA; ECHOCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; EPILEPTIC DISCHARGE; GROWTH RETARDATION; HEART ATRIUM SEPTUM DEFECT; HEART MURMUR; HUMAN; JAPANESE; KABUKI MAKEUP SYNDROME; MALE; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; RASH; TONIC CLONIC SEIZURE; UNILATERAL PERISYLVIAN CORTICAL DYSPLASIA;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; FACE; HEMATOLOGIC DISEASES; HUMANS; JAPAN; MAGNETIC RESONANCE IMAGING; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT; VESTIBULAR DISEASES;

EID: 78751628841     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.braindev.2010.04.001     Document Type: Article

References (9)

1. Niikawa N., Matsuura N., Fukushima Y., Ohsawa T., Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual faces, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981, 99:565-569.
2. Kuroki Y., Suzuki Y., Chyo Y., Hata A., Matsui I. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981, 99:570-573.
3. Niikawa N., Kuroki Y., Kajii T., Matsuura N., Ishikiriyama S., Tonoki H., et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988, 31:565-589.
4. Adam M.P., Hudgins L. Kabuki syndrome: a review. Clin Genet 2004, 67:209-219.
5. Schrander-Stumpel C., Meinecke P., Wilson G., Gillessen-Kasebach G., Tinschert S., Konig R., et al. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 1994, 153:438-445.
6. Wilson G.N. Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management. Am J Med Genet 1998, 79:112-120.
7. Di Gennaro G., Condoluci C., Casali C., Ciccarelli O., Albertini G. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome. Pediatr Neurol 1999, 21:566-568.
8. Mihci E., Tacoy S., Haspolat S., Karaali K. Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet 2002, 111:448-449.
9. Powell H.W.R., Hart P.E., Sisodiya S.M. Epilepsy and perisylvian polymicrogyria in a patient with Kabuki syndrome. Dev Med Child Neurol 2003, 45:841-843.