title: Chromosome 11q13 deletion syndrome.
abstract: 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 theFGF3gene 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.
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Yu-Seon
authors.initials: YS
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Gun-Ha
authors.initials: GH
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Jung Hye
authors.initials: JH
authors.lastname: Byeon
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: So-Hee
authors.initials: SH
authors.lastname: Eun
authors.affiliation: Department of Pediatrics, Korea University College of Medicine, Seoul, Korea.
authors.forename: Baik-Lin
authors.initials: BL
authors.lastname: Eun
keywords: Chromosome 11q13; Coloboma; Hearing loss; Otodental syndrome; Tooth abnormalities