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Kabuki make-up syndrome: a review.
Am J Med Genet C Semin Med Genet. 2003 Feb 15; 117C(1):57-65.AJ

Abstract

Kabuki make-up syndrome (KMS, OMIM 147920) is an MCA/MR syndrome of unknown cause. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. Approximately more than 350 cases have been reported from all over the world. Besides these five cardinal manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitis media (63%) were well recognized as other frequent features. A variety of visceral anomalies such as cardiovascular anomalies (42%), renal and/or urinary tract anomalies (28%), biliary atresia, diaphragmatic hernia, and anorectal anomaly were also reported. Some patients were said to have normal intelligence (16%) and normal heights, suggesting that they may have reproductive fitness to have their children. At least eight patients had lower lip pits with or without cleft palate, known as a feature of van der Woude syndrome. There have been 13 chromosomal abnormalities associated with KMS. However, no common abnormalities or breakpoints that possibly contribute to positional cloning of the putative KMS gene(s) are known. Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied.

Authors+Show Affiliations

Department of Human Genetics, Nagasaki University School of Medicine, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.No affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

12561059

Citation

Matsumoto, Naomichi, and Norio Niikawa. "Kabuki Make-up Syndrome: a Review." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 117C, no. 1, 2003, pp. 57-65.
Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet. 2003;117C(1):57-65.
Matsumoto, N., & Niikawa, N. (2003). Kabuki make-up syndrome: a review. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 117C(1), 57-65.
Matsumoto N, Niikawa N. Kabuki Make-up Syndrome: a Review. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65. PubMed PMID: 12561059.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Kabuki make-up syndrome: a review. AU - Matsumoto,Naomichi, AU - Niikawa,Norio, PY - 2003/2/1/pubmed PY - 2003/8/2/medline PY - 2003/2/1/entrez SP - 57 EP - 65 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 117C IS - 1 N2 - Kabuki make-up syndrome (KMS, OMIM 147920) is an MCA/MR syndrome of unknown cause. It is characterized by a dysmorphic face, postnatal growth retardation, skeletal abnormalities, mental retardation, and unusual dermatoglyphic patterns. Approximately more than 350 cases have been reported from all over the world. Besides these five cardinal manifestations, joint laxity (74%), dental abnormalities (68%), and susceptibility to infections including recurrent otitis media (63%) were well recognized as other frequent features. A variety of visceral anomalies such as cardiovascular anomalies (42%), renal and/or urinary tract anomalies (28%), biliary atresia, diaphragmatic hernia, and anorectal anomaly were also reported. Some patients were said to have normal intelligence (16%) and normal heights, suggesting that they may have reproductive fitness to have their children. At least eight patients had lower lip pits with or without cleft palate, known as a feature of van der Woude syndrome. There have been 13 chromosomal abnormalities associated with KMS. However, no common abnormalities or breakpoints that possibly contribute to positional cloning of the putative KMS gene(s) are known. Although clinical manifestations of KMS are well established, its natural history, useful for genetic counseling, remains to be studied. SN - 1552-4868 UR - https://www.unboundmedicine.com/medline/citation/12561059/Kabuki_make_up_syndrome:_a_review_ L2 - https://doi.org/10.1002/ajmg.c.10020 DB - PRIME DP - Unbound Medicine ER -