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Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.
Ko, Jaemin; Pomerantz, Jason H; Perry, Hazel; Shieh, Joseph T; Slavotinek, Anne M; Oberoi, Snehlata; Klein, Ophir D.
Afiliação
  • Ko J; Program in Craniofacial Biology and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California, San Francisco, CA, USA.
  • Pomerantz JH; Program in Craniofacial Biology and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California, San Francisco, CA, USA.
  • Perry H; Division of Plastic and Reconstructive Surgery, Department of Surgery, University of California San Francisco, San Francisco, CA, USA.
  • Shieh JT; Program in Craniofacial Biology and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California, San Francisco, CA, USA.
  • Slavotinek AM; Division of Medical Genetics, Department of Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Oberoi S; Division of Medical Genetics, Department of Pediatrics, and Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
  • Klein OD; Program in Craniofacial Biology and Division of Craniofacial Anomalies, Department of Orofacial Sciences, University of California, San Francisco, CA, USA.
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 / Fissura Palatina / Anormalidades Craniofaciais Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Fenda Labial / Fissura Palatina / Anormalidades Craniofaciais Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article