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At least 1,477 records · Page 82Linked to original sources
PubMed1999

Kabuki syndrome: description of dental findings in 8 patients.

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.

Bone and Bones↗
PubMed1993

Maxillary canine-first premolar transposition, associated dental anomalies and genetic basis.

Maxillary canine-first premolar (Mx.C.P1) transposition, an uncommon dental anomaly involving positional interchange of the two teeth, was studied using a sample of 43 subjects with the abnormality. Data were recorded on sidedness, sex, race, tooth agenesis, and peg-shaped maxillary lateral incisors for each case. Mx.C.P1 transposition occurred bilaterally in nearly one-quarter of the sample and favored female expression (sex ratio, M1:F3.8) and left-side occurrence (61% of unilateral cases). Familial occurrence was noted, as was a predilection for white subjects. Tooth agenesis (excluding third molars) and/or peg-shaped maxillary lateral incisors accompanied Mx.C.P1 transposition in 49% (21) of the subjects, four to ten times the normal rate of occurrence. Data from this study and the analysis of previously published cases provided strong evidence that Mx.C.P1 transposition is a disturbance of tooth order and eruptive position resulting from genetic influences within a multifactorial inheritance model.

Adolescent↗
PubMed1998

A new multiple congenital anomaly, mental retardation syndrome with preaxial brachydactyly, hyperphalangism, deafness and orodental anomalies.

We report on a child with a 'new' syndrome characterized by multiple congenital anomalies, mental retardation, sensorineural deafness, talon cusps of upper central incisors, growth retardation, bilateral symmetrical digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism of digits I-III. Because he had a similarly affected brother and his parents were cousins we suggest autosomal recessive inheritance, X-linked recessive inheritance cannot be excluded. Differential diagnosis from other syndromes with preaxial brachydactyly and hyperphalangism is presented.

Abnormalities, Multiple↗
PubMed1983

Multiple congenital defects: report of a case.

An unusual case history is presented in which a 4-year-old Oriental boy, born with multiple congenital defects primarily affecting anatomic structures in the midline, was treated by an oral surgeon, restorative dentist, and others. The defects included cleft palate, two complete and separate tongues, missing and decayed teeth, and an aortic abnormality. Treatment procedures included restoring the teeth, uniting the two tongues, lip repair, and fabrication of an obturator to close the palatal defect.

Abnormalities, Multiple↗
PubMed1999

[Maxillodental anomalies and consanguineous marriages].

Families of 549 probands and families of 123 probands with cleft lip and/or palate were examined in order to evaluate the relationship between marriages between close relatives and the incidence and structure of maxillodental diseases. Clinical and genealogical analysis of families of probands with maxillodental abnormalities and cleft lip and/or palate showed a significantly higher incidence of marriages between close relatives and an inbreeding coefficient in these families. Analysis of the population and familial incidence of maxillodental abnormalities and the inbreeding coefficient will help the physicians consulting such families more accurately evaluate the risk and improve the efficacy of prevention of such conditions.

Azerbaijan↗