Dominant inheritance of Kabuki make‐up syndrome

Tsukahara, Masato; Kuroki, Yoshikazu; Imaizumi, Kiyoshi; Miyazawa, Yoichiro; Matsuo, Kiyosato

doi:10.1002/(sici)1096-8628(19971128)73:1<19::aid-ajmg5>3.3.co;2-8

Cited by 20 publications

(27 citation statements)

References 10 publications

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“…The paralysis of the diaphragm present could be another uncommon manifestation of KS. Diaphragmatic hernia was reported by Philip et al [1992] in 2 of 17 patients and was present in a fetus thought to have KS [Silengo et al, 1996]; a small localized eventration of the right diaphragm and a liver herniated through a partial defect of the right diaphragm were described by Halal et al [1989] and Tsukahara et al [1997], respectively.…”

Section: Discussionmentioning

confidence: 99%

“…This was also favored by Niikawa et al [1988], Say et al [1993], Ilyina et al [1995], and Chu et al [1997] in view of the presence of a facial resemblance in parents and/or relatives of some patients. A few familial cases of KS were reported [Halal et al, 1989; Silengo et al, 1991, 1996; Kobayashi and Sakuragawa, 1996; Tsukahara et al, 1997; Wilson, 1998].…”

Section: Introductionmentioning

confidence: 99%

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Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome

et al. 2000

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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, an abnormal dentition, early breast development, and low-normal intelligence. Because mother and daughter both had evident Kabuki syndrome, we conclude that KS in this family is inherited as a dominant trait. Further family history supports this finding. Microscopic examination of the hair of the proposita shows abnormalities consisting of trichorrhexis nodosa, twisting of the hairshafts, and irregularity of the diameter of the hair, as was described recently in a patient with KS. This could be another occasional finding in this syndrome, but further studies are required. The presence of abnormal hair, nails, and the commonly described tooth abnormalities in KS further suggest ectodermal involvement in this syndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome

et al. 2000

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“…Diaphragmatic abnormalities have also been rarely reported, including congenital diaphragmatic hernia, eventration of the diaphragm, and paralysis of the diaphragm (6, 10, 19, 32, 44–46). Diaphragmatic abnormalities appear to be much more commonly found in non‐Asian patients (45).…”

Section: Manifestations By Organ Systemmentioning

confidence: 99%

“…A number of familial cases have been reported, which document vertical transmission of KS or KS‐like features from mothers to sons and daughters and father to daughter (5, 6, 44, 58, 69, 70). Two pairs of monozygotic twins have been reported; in one pair, the twins were concordant for KS and in the other pair, the twins where discordant for KS (68, 71).…”

Section: Etiology Pathogenesis and Geneticsmentioning

confidence: 99%

Kabuki syndrome: a review

2004

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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.

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“…Various, probably incidental, chromosomal anomalies have been described [Lo et al, 1998]. There are a few examples of familial transmission with possible autosomal‐dominant inheritance [Niikawa et al, 1988; Halal et al, 1989; Tsukahara et al, 1997]. KS might, therefore, be due to a de novo autosomal‐dominant mutation in an unidentified gene.…”

Section: Introductionmentioning

confidence: 99%