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Kabuki syndrome: description of dental findings in 8 patients
Author(s) -
Mhanni AA,
Cross HG,
Chudley AE
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.560211.x
Subject(s) - medicine , kabuki , kabuki syndrome , incisor , dental anomalies , malocclusion , orthodontics , dentistry , pediatrics , art , visual arts
The cardinal features of Kabuki (Niikawa–Kuroki) syndrome (KS) include characteristic facial dysmorphic features, mild to moderate mental deficiency, skeletal abnormalities, dermatoglyphic abnormalities, and postnatal growth retardation. We identified 8 patients with KS in a genetics clinic over the past 5 years. All were Caucasians, except for 2 who were of mixed Aboriginal and Caucasian descent. All had the facial gestalt, the dermatoglyphic abnormalities characteristic of the syndrome, and developmental delay. Dental abnormalities of permanent teeth were seen in all 8 cases; 6 had missing lower incisors. Five patients had uniquely abnormal upper incisor teeth shape; the upper incisors had a ‘flat head’ screwdriver‐shaped appearance. Other dental abnormalities included missing lower lateral incisors, missing second premolars, and ectopic upper 6‐year molars. We believe the presence of the unique dental findings will prove useful in the diagnostic assessment of individuals with KS.