Abstract
The purpose of this paper is to describe the clinical findings and management of a case involving a patient with co-occurring ring chromosome 14 syndrome and 47,XXX presenting with enamel pit defects and taurodontism. Ring chromosome 14 syndrome is an unusual condition with uncontrolled seizure disorder as its most significant finding; 47,XXX (trisomy X; triple X) is a more common condition and has characteristic physical and behavioral findings. Neither condition has been associated with enamel pit defects.
MeSH terms
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Anesthesia, General
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Child
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Chromosomes, Human, Pair 14
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Chromosomes, Human, X
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Dental Caries / diagnostic imaging
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Dental Caries / rehabilitation
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Dental Caries / therapy
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Dental Enamel / abnormalities*
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Dental Enamel / diagnostic imaging
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Dental Enamel Hypoplasia / diagnostic imaging
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Dental Pulp Cavity / abnormalities*
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Epilepsy
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Female
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Humans
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New Orleans
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Ring Chromosomes*
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Sex Chromosome Aberrations
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Sex Chromosome Disorders of Sex Development / complications*
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Sex Chromosome Disorders of Sex Development / physiopathology
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Tooth Abnormalities / etiology*
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Trisomy / physiopathology
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Vagus Nerve Stimulation
Supplementary concepts
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Ring Chromosome 14 Syndrome
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Taurodontism
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Triple X syndrome