• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.10-13
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• 2016

Chromosome 11q13 deletion syndrome has been previously reported as either otodental syndrome or oculo-oto-dental syndrome. The otodental syndrome is characterized by dental abnormalities and high-frequency sensorineural hearing loss, and by ocular coloboma in some cases. The underlying genetic defect causing otodental syndrome is a hemizygous microdeletion involving the FGF3 gene on chromosome 11q13.3. Recently, a new form of severe deafness, microtia (small ear) and small teeth, without the appearance of eye abnormalities, was also reported. In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and long-term dental care.

• Journal of the korean academy of Pediatric Dentistry
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• v.28 no.1
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• pp.12-15
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• 2001

Dilaceration is a tooth abnormaly occuring in the histo-morphodifferention stage resulting from disturbance between the uncalcified and already calcified portion that affects both the crown and root. The involved tooth is usually the maxillary central incisor and it also shows high prevalence of impaction. The cause of dilaceration can be either from the trauma of the primary tooth, ectopic development of the tooth germ or from cysts. And it is also found in some cases of Otodental syndrome, Hurler syndrome, Cleidocranial dysostosis. The purpose of this study is to show that periapical lesions caused by dental caries can be another factor in causing dilaceration.