Rare Diseases Symptoms Automatic Extraction

Craniofacial and dental characteristics of Kabuki syndrome: nine years cephalometric follow-up.

[kabuki syndrome]

Kabuki syndrome is a rare autosomal dominant trait with variable clinical expression. Common dental manifestations of Kabuki syndrome are high-arched palate, micrognathia, malocclusion, microdontia, small dental arches, hypodontia, severe maxillary recession and mid-facial hypoplasia.This report includes the oral manifestations of a Turkish patient with Kabuki syndrome with consideration of the long-term craniofacial prognosis for this patient based on the physical, clinical and radiological findings in 9 years follow-up period. General appearance of the patient was characterized by postnatal growth retardation, moderate mental retardation, peculiar face characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids, prominent and cup-shaped ears, broad and depressed nasal tips, short fifth fingers, psychomotor retardation and dermatologic abnormalities.Cephalometric analysis revealed skeletal open bite; periapical and panoramic radiographic examinations showed agenesis permanent teeth. A patient with Kabuki syndrome, who may lead to a better understanding of the abnormalities, playing an important role in clinical diagnosis, planning and dental management is presented.

Diseases presenting "panoramic radiographic examinations" symptom

  • kabuki syndrome

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