Korean J Pediatr.  2016 Nov;59(Suppl 1):S10-S13. 10.3345/kjp.2016.59.11.S10.

Chromosome 11q13 deletion syndrome

• Kim YS
• Kim GH
• Byeon JH
• Eun SH
• Eun BL

• KMID: 2362245
• DOI: http://doi.org/10.3345/kjp.2016.59.11.S10

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 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.

Keyword

Chromosome 11q13; Otodental syndrome; Tooth abnormalities; Hearing loss; Coloboma

MeSH Terms

Coloboma
Congenital Abnormalities
Congenital Microtia
Deafness
Dental Care
Dentition
Eye Abnormalities
Eyelids
Female
Hand
Hearing
Hearing Loss
Hearing Loss, Sensorineural
Humans
Microcephaly
Nucleic Acid Hybridization
Palate
Tooth
Tooth Abnormalities