Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation

American Journal of Medical Genetics

Volumn 110, Issue 4, 2002, Pages 384-390

  Shotelersuk, Vorasuk ^a,b   Punyashthiti, Rachaneekorn ^a   Srivuthana, Sumarlee ^a   Wacharasindhu, Suttipong ^a  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

Aplasia cutis; Discordant twins; Hyper thyrotropinemia; Kabuki syndrome; Lower lip pits; Pilonidal sinus

Indexed keywords

THYROTROPIN;

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; HUMAN; INCISOR; KABUKI MAKEUP SYNDROME; LOWER LIP; MALE; MONOZYGOTIC TWINS; PHENOTYPE; PILONIDAL SINUS; PRIORITY JOURNAL; SKIN APLASIA; SKIN DEFECT; THAILAND; TOOTH ERUPTION; TWIN DISCORDANCE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD, PRESCHOOL; FACE; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; MALE; MENTAL RETARDATION; PHENOTYPE; SKIN ABNORMALITIES; SYNDROME; THAILAND; TWINS, MONOZYGOTIC;

EID: 0037100032     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10474     Document Type: Article

References (23)

1. Kabuki syndrome: Underdiagnosed recognizable pattern in cleft palate patients
2. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
3. Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome
4. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4
5. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome
6. Kabuki make-up syndrome associated with an acquired hypogammaglobulinemia and anti-IgA antibodies
7. Inner ear abnormalities in Kabuki make-up syndrome: Report of three cases
8. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations
9. Phenotypic spectrum and management issues in Kabuki syndrome
10. Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome
11. Lower lip pits and anorectal anomalies in Kabuki syndrome
12. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
13. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13
14. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41
15. Craniofacial and dental characteristics of Kabuki syndrome
16. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
17. Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients
18. Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls
19. Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome
20. A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurosecretory dysfunction
21. Dominant inheritance of Kabuki make-up syndrome
22. Monozygotic twins discordant for spondylocostal dysostosis
23. Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management