Palatoplasty for the Patient With Campomelic Dysplasia-Report of a Case and Review of the Literature.
Cleft Palate Craniofac J
; 59(1): 132-136, 2022 01.
Article
em En
| MEDLINE
| ID: mdl-33576275
ABSTRACT
Campomelic dysplasia (CMPD) is a skeletal disorder resulting from SOX9 gene mutations. Palatoplasty is rare due to a high lethality rate in infants from respiratory distress. Our patient had characteristic symptoms of CMPD, including short bowed limbs, macrocephaly, low-set ears, short palpebral fissures, hypertelorism, a flat nasal bridge, a long philtrum, micrognathia, and a cleft palate. We performed a Furlow palatoplasty when the patient was 2 years 9 months of age, after respiratory conditions had stabilized. We reviewed the literature of CMPD cases that underwent palatoplasty and discussed the optimal timing and surgical methods.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Desenvolvimento Sexual
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Insuficiência Velofaríngea
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Fissura Palatina
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Procedimentos de Cirurgia Plástica
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Displasia Campomélica
Tipo de estudo:
Observational_studies
Limite:
Humans
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Infant
Idioma:
En
Revista:
Cleft Palate Craniofac J
Ano de publicação:
2022
Tipo de documento:
Article