Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)
نویسندگان
چکیده
BACKGROUND Kabuki syndrome is a multi-system disorder with peculiar facial features, and ophthalmic abnormalities are frequently involved. This case report of a child with Kabuki syndrome describes two new previously unreported ophthalmic conditions. CASE PRESENTATION A 3-year-old Taiwanese boy with Kabuki syndrome had a short stature, spinal dysraphism, intellectual disability and typical facial features. Ophthalmic findings which have been previously reported in the literature and in this patient, included ptosis, esotropia, coloboma of the iris, retina, choroid and optic disc, and microcornea. The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping. The genetic analysis identified an MLL2 gene mutation. CONCLUSION The presentations of a dysplastic disc and colobomatous microphthalmia are rarely reported in patients with Kabuki syndrome, but these ophthalmic abnormalities may affect vision. Detailed ophthalmic evaluations in children with Kabuki syndrome are advised.
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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...
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