Central nervous system abnormalities in Kabuki (Niikawa-Kuroki) syndrome [4]

American Journal of Medical Genetics

Volumn 111, Issue 4, 2002, Pages 448-449

  Mihçi, Ercan ^a   Taçoy, Sükran ^a   Haspolat, Senay ^a   Karaali, Kamil ^a  

^a AKDENIZ UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

PHENOBARBITAL;

CASE REPORT; CLINICAL FEATURE; CRYPTORCHISM; FACE MALFORMATION; HETEROTOPIA; HUMAN; INTRACTABLE EPILEPSY; JOINT HYPERMOBILITY; KABUKI MAKEUP SYNDROME; LETTER; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALATE MALFORMATION; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; ADULT; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CONGENITAL MALFORMATION; CORPUS CALLOSUM; DEVELOPMENTAL DISORDER; FEMALE; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY;

ABNORMALITIES, MULTIPLE; ADULT; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CORPUS CALLOSUM; DEVELOPMENTAL DISABILITIES; FEMALE; HUMAN; MALE; HUMANS;

EID: 0036707808     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10573     Document Type: Letter

References (7)

1. Central nervous system malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review
2. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome
3. The Niikawa-Kuroki (Kabuki make-up) syndrome in a Moslem Arab child
4. Kabuki make-up syndrome and report of a case with hydrocephalus
5. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
6. Kabuki make-up syndrome: A syndrome of mental retardation, unusual faces, large and protruding ears, and postnatal growth deficiency
7. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients