Special Care in Dentistry · 2008 · 17 citations · 25 references
This article documents the case history of a 9-year-old Brazilian child diagnosed with Kabuki make-up syndrome (KMS). The clinical features are described, with emphasis on the craniofacial and orodental manifestations. The patient had the distinctive KMS craniofacial features consisting of long palpebral fissure, hypertelorism, high-arched eyebrows with sparse hair in the lateral one-third, eyes with eversion of the lateral one-third of the lower eyelids, long and curved eyelashes, palpebral ptosis, large anteverted prominent ears in a lower position, broad, depressed nasal root with a flat nasal tip, and mild neuropsychomotor developmental deficits. The intraoral examination revealed an anterior open bite, overretention of primary teeth, and a high-arched palate. Two findings in this child have not been previously reported in patients with KMS: the presence of supernumerary teeth and taurodontic teeth in the maxillary arch. The clinical and radiographic detection of these unique dental features may be helpful in identifying children who may have milder forms of KMS.
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Norio Niikawa, Nobuo Matsuura, Yoshimitsu Fukushima et al. · The Journal of Pediatrics · 1981 · 534 citations
Developmental Anomaly, Developmental Biology, Protruding Ears +6
Yoshikazu Kuroki, Yasuyuki Suzuki, Hiroyuki Chyo et al. · The Journal of Pediatrics · 1981 · 451 citations
Developmental Anomaly, Thumb Hypoplasia, New Malformation Syndrome +7
Phenotypic spectrum and management issues in Kabuki syndrome
Hiroshi Kawame, Mark Hannibal, Louanne Hudgins et al. · The Journal of Pediatrics · 1999 · 169 citations