Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.
Cleft Palate Craniofac J
; 57(1): 132-136, 2020 01.
Article
em En
| MEDLINE
| ID: mdl-31248274
Floating-Harbor syndrome (FHS) is a rare genetic disorder caused by heterozygous mutations in the Snf2-related CREBBP activator protein (SRCAP) gene. The syndrome is characterized by proportional short stature, delayed bone maturation, delayed speech development, and facial dysmorphism. Submucous cleft palate and cleft lip have been reported in FHS, but to our knowledge orofacial clefting in this condition has not been assessed in detail. Here, we report on a case of bilateral cleft lip in a patient with FHS confirmed by exome sequencing.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Fenda Labial
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Fissura Palatina
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Anormalidades Craniofaciais
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article