title: Nager syndrome and Pierre Robin sequence.
abstract: Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of Pierre Robin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.
authors: Clinical Genetics, Hospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, Brazil; Department of Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil; Clinical Genetics, UFCSPA and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Brazil.
authors: Rafael Fabiano Machado
authors: RF
authors: Rosa
authors: Victória Bernardes
authors: VB
authors: Guimarães
authors: Luciana Amorim
authors: LA
authors: Beltrão
authors: Júlia Santana
authors: JS
authors: Trombetta
authors: Karen Lizeth Puma
authors: KL
authors: Lliguin
authors: Vinicius Freitas
authors: VF
authors: de Mattos
authors: Paulo Ricardo Gazzola
authors: PR
authors: Zen
mesh_terms: D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D010855:Pierre Robin Syndrome / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D012121:Respiration, Artificial; D014139:Tracheostomy
keywords: Nager syndrome; Pierre Robin sequence; cleft palate; glossoptosis; micrognathia