Search Results - "Richieri da Costa, Antonio"
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Cerebro-oculo-nasal syndrome: Report of a case with a severe phenotype
Published in American journal of medical genetics. Part A (01-03-2009)Get full text
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Odontogenic keratocyst and multiple supernumerary teeth in a patient with Ehlers-Danlos syndrome--a case report and review of the literature
Published in Quintessence international (Berlin, Germany : 1985) (01-03-2008)“…Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue related to collagen metabolism. Deficiency or alteration of the collagen present…”
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3
Trigonocephaly
Published in The Journal of craniofacial surgery (01-09-1992)“…Trigonocephaly has been described either as an isolated anomaly or as part of the clinical spectrum of some well-known syndromes. Treatment, complications, and…”
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4
Perfil audiológico de indivíduos portadores da síndrome de Goldenhar
Published in Revista brasileira de otorrinolaringologia (01-10-2004)“…A síndrome de Goldenhar é uma anomalia congênita rara, de etiologia ainda desconhecida e caracterizada por uma tríade clássica de alterações oculares,…”
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FG syndrome update 1988: note of 5 new patients and bibliography
Published in American journal of medical genetics (01-05-1988)“…At the eve of its mapping, the pre-molecular picture of the FG syndrome is heavily biased towards the severe end of the phenotypic spectrum because present…”
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6
Perfil audiológico de indivíduos portadores da síndrome de Goldenhar
Published in Revista brasileira de otorrinolaringologia (01-10-2004)“…A síndrome de Goldenhar é uma anomalia congênita rara, de etiologia ainda desconhecida e caracterizada por uma tríade clássica de alterações oculares,…”
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Primer caso de síndrome cerebro-oculo-nasal en colombia, y el primero en el mundo con diagnostico prenatal
Published in Iatreia (01-11-2010)“…Introducción: el síndrome cerebro-oculo-nasal (CONS) es caracterizado por anomalías del sistema nervioso central, oculares y nasales. La prevalencia de este…”
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Hypoglossia-hypodactyly syndrome in a Brazilian child: clinical and surgical aspects
Published in The Journal of craniofacial surgery (01-07-1992)“…We describe a Brazilian child born with the hypoglossia-hypodactyly syndrome, complicated by bands joining the maxilla to the mandible. Clinical findings are…”
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