title: Isolated Robin sequence in siblings: review of current concepts.
abstract: Robin sequence is a condition that includes the triad of micrognathia, glossoptosis and upper airway obstruction, although many authors now consider that cleft palate is also an important part of the sequence. It can be classified as isolated, syndromic or associated with other anomalies without an identifiable syndrome. A possible genetic cause for isolated Robin sequence is yet under preliminary investigation, and the finding of siblings with the same condition, as are the two children we present in this work, is extremely rare, with only nine similar cases previously described. Our article includes the description of the treatment plan and outcome for both children. We review the current concepts and trends of epidemiology, genetics, diagnosis and different treatment options available. We conclude that in cases of failure of more conservative measures in the first weeks, mandibular distraction osteogenesis may be a good and rational option for the management of isolated Robin sequence, as is currently supported in recent literature, providing a reliable way of avoiding tracheostomy.
authors.affiliation: Serviço de Cirurgia Plástica, Reconstrutiva e Maxilofacial, Hospital de Egas Moniz, CHLO, Lisbon, Portugal, Rua da Junqueira, 126, 1349-019 Lisboa, Portugal. Electronic address: jlncost@gmail.com.
authors.forename: João
authors.initials: J
authors.lastname: Nunes da Costa
authors.affiliation: Serviço de Cirurgia Plástica, Reconstrutiva e Maxilofacial, Hospital de Egas Moniz, CHLO, Lisbon, Portugal, Rua da Junqueira, 126, 1349-019 Lisboa, Portugal.
authors.forename: Júlio
authors.initials: J
authors.lastname: Matias
mesh_terms: D003952:Diagnostic Imaging; D006801:Humans; D019857:Osteogenesis, Distraction; D010855:Pierre Robin Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000601:surgery*; D017410:Practice Guidelines as Topic; D035781:Siblings; D014139:Tracheostomy
keywords: Genetics; Mandibular distraction osteogenesis; Pierre Robin; Robin sequence; Siblings