Kabuki syndrome: A review study of three hundred patients

Clinical Dysmorphology

Volumn 11, Issue 2, 2002, Pages 95-102

  Wessels, Marja W ^a   Brooks, Alice S ^a   Hoogeboom, Jeannette ^a   Niermeijer, Martinus F ^a   Willems, Patrick J ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

Fetal pads; Kabuki syndrome; Long palpebral fissures; Review

Indexed keywords

ARTICLE; CHROMOSOME ABERRATION; CLEFT PALATE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; DIFFERENTIAL DIAGNOSIS; DIGESTIVE SYSTEM MALFORMATION; ENDOCRINE DISEASE; EYELID DISEASE; FACE MALFORMATION; FERTILITY; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; IMMUNOPATHOLOGY; KABUKI MAKEUP SYNDROME; LIMB MALFORMATION; MENTAL DEFICIENCY; NOONAN SYNDROME; PALPEBRAL FISSURE ANOMALY; PRIORITY JOURNAL; REPRODUCTION; SKELETON MALFORMATION; TURNER SYNDROME; UROGENITAL TRACT MALFORMATION; BONE; CONGENITAL MALFORMATION; EYEBROW; EYELID; FACIES; FEMALE; FINGER; GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; REVIEW; SYNDROME;

ABNORMALITIES, MULTIPLE; BONE AND BONES; DIAGNOSIS, DIFFERENTIAL; EYEBROWS; EYELIDS; FACIES; FEMALE; FERTILITY; FINGERS; HEART DEFECTS, CONGENITAL; HUMANS; MENTAL RETARDATION; SYNDROME; UROGENITAL ABNORMALITIES;

EID: 0036009942     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200204000-00004     Document Type: Article

References (61)

1. Kabuki syndrome: Under-diagnosed recognizable pattern in cleft palate patients
2. Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency
3. CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: Report and review
4. Hardikar syndrome: A new syndrome with cleft lip/palate, pigmentary retinopathy and cholestasis
5. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
6. Three patients with ring (X) chromosomes and a severe phenotype
7. Growth hormone deficiency and premature thelarche in a female infant with Kabuki makeup syndrome
8. Congenital heart defects in Kabuki syndrome
9. Kabuki syndrome and diaphragmatic defects: A frequent association in non-Asian patients?
10. Severe congenital anomalies requiring transplantation in children with Kabuki syndrome
11. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome
12. Hypoplastic claviculae in the Kabuki (Niikawa-Kuroki) syndrome
13. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4
14. Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency
15. Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children
16. Epilepsy and polymicrogyria in Kabuki make-up (Niikawa-Kuroki) syndrome
17. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome
18. Multisystem obstruction with cholestasis, pigmentary retinopathy, and cleft palate: A new syndrome?
19. Kabuki make-up (Niikawa-Kuroki) syndrome: Cognitive abilities and autistic features
20. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies
21. Coarctation of the aorta in Kabuki syndrome
22. Inner ear abnormalities in Kabuki make-up syndrome: Report of three cases
23. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations
24. Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome
25. Kabuki make-up-Ulrich-Turner syndrome: Report of 12 patients
26. Kabuki make-up syndrome and report of a case with hydrocephalus
27. Phenotypic spectrum and management issues in Kabuki syndrome
28. Kabuki syndrome - Report of six cases and review of the literature with emphasis on ocular features
29. Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome
30. Lower lip pits and anorectal anomalies in Kabuki syndrome
31. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
32. Kabuki syndrome with lip pits: A possible microdeletion syndrome involving the van der Woude locus
33. Ectodermal abnormalities in Kabuki syndrome
34. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q11.2
35. Interstitial dup(1p) with findings of Kabuki make-up syndrome
36. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13
37. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41
38. Anorectal anomalies associated with Kabuki make-up syndrome
39. Craniofacial and dental characteristics of Kabuki syndrome
40. Biliary atresia in Kabuki syndrome
41. Ring chromosome X in a child with manifestations of Kabuki syndrome
42. Genetic landmarks through philately - Kabuki theater and Kabuki syndrome
43. Kabuki syndrome: Description of dental findings in 8 patients
44. Kabuki make-up syndrome associated with West syndrome
45. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
46. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients
47. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 16 non-Japanese cases
48. A new association of Kabuki make-up syndrome and malignant hypertermia
49. Kabuki make-up syndrome and hearing impairment
50. The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese patients
51. Biliary atresia and Kabuki syndrome: Another case with long-term follow-up
52. Inheritance of Niikawa-Kuroki (Kabuki make up) syndrome
53. Kabuki syndrome-like features associated with a small ring chromosome X gene expression
54. Case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction
55. Deafness and Mondini dysplasia in Kabuki (Niikawa-Kuroki) syndrome. Report of a case and review of the literature
56. Dominant inheritance of Kabuki make-up syndrome
57. Unexpected life threatening complications in Kabuki syndrome
58. Kabuki make-up syndrome associated with chronic idiopathic thrombocytopenic purpura
59. Kabuki make-up and Turner syndromes in the same patient
60. Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management
61. Cerebellar and brainstem atrophy in a patient with Kabuki make-up syndrome