De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
Pediatr Dermatol
; 33(2): e109-13, 2016.
Article
em En
| MEDLINE
| ID: mdl-26871653
ABSTRACT
A 13-year-old Egyptian girl with generalized hypertrichosis, gingival hyperplasia, coarse facial appearance, no cardiovascular or skeletal anomalies, keloid formation, and multiple labial frenula was referred to our clinic for counseling. Molecular analysis of the ABCC9 gene showed a de novo missense mutation located in exon 27, which has been described previously with Cantu syndrome. An overlap between Cantu syndrome, acromegaloid facial syndrome, and hypertrichosis acromegaloid facial features disorder is apparent at the phenotypic and molecular levels. The patient reported here gives further evidence that these syndromes are an expression of the ABCC9-related disorders, ranging from hypertrichosis and acromegaloid facies to the severe end of Cantu syndrome.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Acromegalia
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Cardiomegalia
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Deformidades Congênitas dos Membros
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Mutação de Sentido Incorreto
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Receptores de Sulfonilureias
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Hipertricose
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2016
Tipo de documento:
Article
País de afiliação:
Egito