Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome
نویسنده
چکیده
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 facial features, skeletal abnormalities, dermatoglyphic abnormalities, short stature and mental retardation.2 Audiological Manifestations in Kabuki (Niikawa-Kuroki) Syndrome Celina Ann M. Tobias, RN, MClinAud1*,2 Teresa Luisa Gloria-Cruz, MD, MHPEd1, 2 Charlotte M. Chiong, MD1, 2
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Anesthesia for a child with Kabuki Syndrome.
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...
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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 ...
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