Frontonasal Dysplasia
Mostrando 1-4 de 4 artigos, teses e dissertações.
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1. Habilidades de linguagem em indivíduos com Displasia Frontonasal / Language skills in individuals with frontonasal dysplasia
Objetivo: Caracterizar o perfil das habilidades de linguagem (oral e escrita) de indivíduos com Displasia Frontonasal com e sem anomalias do sistema nervoso central. Modelo: Análise perspectiva descrevendo os achados da avaliação de linguagem em indivíduos com sinais clínicos de Displasia Frontonasal. Local de execução: Setor de Genética Clínica, H
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 10/05/2012
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2. Frontonasal dysplasia associated with tetralogy of Fallot.
Three children with frontonasal dysplasia associated with tetralogy of Fallot are reported. All cases had true hypertelorism and a median nasal groove with absence of the nasal tip. There was no mental deficiency. The facial anomaly is a sporadic, non-genetic interference of the normal development of the face. This is the first report of frontonasal dysplasi
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3. Frontonasal dysplasia, congenital heart defect, and short stature: a further observation.
We present a mildly retarded boy with frontonasal dysplasia, valvular aortic stenosis, short stature, and small head circumference. In addition, mild genital anomalies and bilateral Sydney lines were present. Strikingly similar cases recently published by de Moor et al suggest a defined clinical entity.
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4. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome
Craniofrontonasal syndrome (CFNS) is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia and coronal craniosynostosis (fusion of the coronal sutures); in males, hypertelorism is the only typical manifestation. Here, we show that the classical female
National Academy of Sciences.