• Clinical and Experimental Pediatrics
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• 제59권sup1호
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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.

• 대한소아치과학회지
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• 제28권1호
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• pp.12-15
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• 2001

치아만곡은 조직-형태분화기에 나타나는 치아형태의 이상으로 석회화된 부위와 미석회화된 부위간의 장애로 인해서 치관 및 치근 모두에서 발생하는 기형이며, 상악 절치에서 호발하며 매복 가능성이 높다고 보고되었다. 만곡의 원인으로는 유치의 외상 치배의 이소성 발육, 낭종이 있으며 그외에 otodental syndrome, Hurler syndrome, 쇄골두개이골증에서 보고되었다. 본 증례는 치아우식증으로 인해서 발생된 치근단병소가 치아만곡을 유발할 수 있는 원인이 될 수 있다고 생각하였기에 이에 보고하는 바이다.