Chromosome 11q13 deletion syndrome.
10.3345/kjp.2016.59.11.S10
- Author:
Yu Seon KIM
1
;
Gun Ha KIM
;
Jung Hye BYEON
;
So Hee EUN
;
Baik Lin EUN
Author Information
1. Department of Pediatrics, Korea University College of Medicine, Seoul, Korea. bleun@korea.ac.kr
- Publication Type:Case Report
- Keywords:
Chromosome 11q13;
Otodental syndrome;
Tooth abnormalities;
Hearing loss;
Coloboma
- MeSH:
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
- From:Korean Journal of Pediatrics
2016;59(Suppl 1):S10-S13
- CountryRepublic of Korea
- Language:English
-
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.
