Chromosome 11q13 deletion syndrome / 소아과
Korean Journal of Pediatrics
;
: S10-S13, 2016.
Article
in English
| WPRIM
| ID: wpr-228473
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Palate
/
Congenital Abnormalities
/
Tooth
/
Tooth Abnormalities
/
Coloboma
/
Eye Abnormalities
/
Dental Care
/
Deafness
/
Dentition
/
Eyelids
Type of study:
Prognostic study
Limits:
Female
/
Humans
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2016
Type:
Article
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