Chromosome 11q13 deletion syndrome / 소아과
Korean Journal of Pediatrics
;
: S10-S13, 2016.
Artigo
em Inglês
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Palato
/
Anormalidades Congênitas
/
Dente
/
Anormalidades Dentárias
/
Coloboma
/
Anormalidades do Olho
/
Assistência Odontológica
/
Surdez
/
Dentição
/
Pálpebras
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2016
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS