Kabuki make-up syndrome (Niikawa-Kuroki syndrome) associated with congenital heart disease.
نویسندگان
چکیده
Kabuki make-up syndrome has been reported mainly among Japanese, so far occurring in more than 20 cases. Among these, however, only one case associated with congenital heart defect has been reported. We have treated three patients with this syndrome and of these two had congenital heart disease. We suggest the possibility that the association of congenital heart disease with Kabuki make-up syndrome may not be fortuitous.
منابع مشابه
Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome
KS is a rare disorder discovered by Japanese doctors Norio Niikawa and Yoshikazu Kuroki in 1981. The syndrome received its name due to the resemblance of the characteristic facial features of patients to the make-up used in the traditional Japanese Kabuki play.1 Niikawa and Kuroki independently described the syndrome in a subset of ten Japanese children that were reported to have distinctive fa...
متن کاملClinical Heterogeneity of Kabuki Syndrome: Study of Moroccan Patients
Kabuki syndrome (KS, Niikawa-Kuroki syndrome, MIM:147920) is a rare multiple congenital anomaly/mental retardation syndrome described simultaneously by Niikawa et al, 1988 and Kuroki et al, 1981. The estimated frequency of this syndrome is about 1/32 000 in Japan. KS is characterized by postnatal growth retardation, distinctive facial features, dermatoglyphic anomalies, skeletal dysplasia, and ...
متن کاملVariable expressivity in a family with Kabuki make-up (Niikawa-Kuroki) syndrome.
Kabuki make-up syndrome (KS), also called Niikawa-Kuroki syndrome, is a rare congenital disorder of unknown etiology. Most KS cases occur sporadically and familial KS had never been reported in Taiwan. I describe four individuals in one family with KS. Significant intrafamilial variability in the clinical expression of this syndrome is evident. In addition to the typical craniofacial dysmorphis...
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SIR—Kabuki syndrome is a rare multiple malforma-tion ⁄ mental retardation syndrome. The exact cause re-mains unknown and multiple possible genetic abnormalities have been reported. Drs Niikawa and Kuroki first described the disease in 10 unrelated children in 1981 (1). The name ‘Kabuki make-up syndrome’ is from the similarities of the faces of affected children with makeup from traditional Japa...
متن کاملArray based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome.
BACKGROUND Kabuki (Niikawa-Kuroki) syndrome comprises a characteristic facial appearance, cleft palate, congenital heart disease, and developmental delay. Various cytogenetically visible chromosomal rearrangements have been reported in single cases, but the molecular genetic basis of the condition has not been established. A recent report described a duplication of 8p22-p23.1 in 13/13 patients....
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 22 2 شماره
صفحات -
تاریخ انتشار 1985