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Kabuki syndrome: a review.
Clin Genet. 2005 Mar; 67(3):209-19.CG

Abstract

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS. This review will focus on the diagnostic criteria, the common and rare features of KS by organ system, and the possible etiology of this interesting condition.

Authors+Show Affiliations

Division of Medical Genetics, Stanford University, Stanford, CA 94305-5208, USA. mlp@stanford.eduNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

15691356

Citation

Adam, M P., and L Hudgins. "Kabuki Syndrome: a Review." Clinical Genetics, vol. 67, no. 3, 2005, pp. 209-19.
Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet. 2005;67(3):209-19.
Adam, M. P., & Hudgins, L. (2005). Kabuki syndrome: a review. Clinical Genetics, 67(3), 209-19.
Adam MP, Hudgins L. Kabuki Syndrome: a Review. Clin Genet. 2005;67(3):209-19. PubMed PMID: 15691356.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kabuki syndrome: a review. AU - Adam,M P, AU - Hudgins,L, PY - 2005/2/5/pubmed PY - 2005/5/25/medline PY - 2005/2/5/entrez SP - 209 EP - 19 JF - Clinical genetics JO - Clin. Genet. VL - 67 IS - 3 N2 - Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa-Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS. This review will focus on the diagnostic criteria, the common and rare features of KS by organ system, and the possible etiology of this interesting condition. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/15691356/Kabuki_syndrome:_a_review_ L2 - https://doi.org/10.1111/j.1399-0004.2004.00348.x DB - PRIME DP - Unbound Medicine ER -