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PubMed2006

[Kabuki syndrome, a congenital syndrome with multiple anomalies].

The characteristics of a 5-years old girl, referred to a multidisciplinary team for cleft lip and palate because of speaking problems, were diagnosed as Kabuki syndrome. The Kabuki syndrome is a congenital syndrome of unknown aetiology, diagnosed based on a combination of clinical findings. It is characterised by distinctive facial features, skeletal anomalies, dermatoglyphic abnormalities, developmental delay and mild to moderate mental retardation. Children with the syndrome often have oral manifestations such as cleft palate, missing permanent teeth and conic crowns of upper incisors. The Kabuki syndrome was first described regarding the Japanese population but it is now known to occur in many other races as well. In a recent publication, 20 Dutch patients with Kabuki syndrome were described.

Abnormalities, Multiple↗
PubMed1988

Dental and oral abnormalities in selected ectodermal dysplasia syndromes.

Only a brief review of the dental and oral abnormalities in a few ectodermal dysplasia syndromes has been presented. Obviously, careful evaluation of the dentitions of patients suspected to have these disorders will add to our knowledge and assist in diagnosis of this heterogeneous group of genetic diseases.

Dental Enamel Hypoplasia↗