Chromosome 11q13 deletion syndrome / 소아과
Korean Journal of Pediatrics
;
: S10-S13, 2016.
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Palais
/
Malformations
/
Dent
/
Malformations dentaires
/
Colobome
/
Malformations oculaires
/
Soins dentaires
/
Surdité
/
Denture
/
Paupières
Type d'étude:
Étude pronostique
Limites du sujet:
Femelle
/
Humains
langue:
Anglais
Texte intégral:
Korean Journal of Pediatrics
Année:
2016
Type:
Article
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