Kabuki make-up syndrome: A review

Published on Feb 15, 2003in American Journal of Medical Genetics Part C-seminars in Medical Genetics7.101
· DOI :10.1002/AJMG.C.10020
Naomichi Matsumoto79
Estimated H-index: 79
(Nagasaki University),
Norio Niikawa82
Estimated H-index: 82
(Nagasaki University)
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 caidiovascular 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. © 2003 Wiley-Liss, Inc.
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#1Norio Niikawa (Hokkaido University)H-Index: 82
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Abstract Dermatoglyphic analyses of 12 patients with the newly recognized Kabuki make-up syndrome revealed a combination of unusual dermatoglyphic patterns. They included frequent fingertip ulnar loop patterns (72%), the absence of digital triradius c or d (25%), an interdigital triradius bc or cd (33%), hypothenar loop patterns (67%), and ulnar loop patterns in the fourth interdigital area (17%). Other unusual findings included persistence of fingertip pads (58%), a single flexion crease of the...
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#2Bruno MarinoH-Index: 60
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Kabuki makeup (Niikawa-Kuroki) syndrome (KS) is characterized by distinct facial anomalies, mental retardation, congenital heart defect (CHD), and skeletal malformations. In the present study we analyze cardiac characteristics and differences in sex prevalence of specific CHDs in our series of patients with KS and review published reports from the literature. Between January 1992 and February 2000, 60 patients (37 males and 23 females) with KS underwent phenotypic and cardiac evaluations at our ...
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SUMMARY The purpose of this investigation was to evaluate the craniofacial growth of a patient diagnosed with Kabuki make-up syndrome (KMS). Craniofacial growth was assessed by analysing lateral cephalometric radiographs with an interval of 12‐15 months. They were taken from 6 years 9 months to 14 years 2 months. Angular and linear measurement analyses of the craniofacial complex showed a hypoplastic maxilla and a constricted maxillary basal arch width. The mandibular size was relatively large a...
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#1Tullio Frediani (Sapienza University of Rome)H-Index: 17
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Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor retardation. Her mother had a similar facial appearance, prominent, cup-shaped ears...
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#1Víctor Faundes (University of Manchester)H-Index: 8
#2Stephanie Goh (University of Manchester)
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