title: [Lethal osteogenesis imperfecta in a Congolese newborn infant].
abstract: BACKGROUND
  Several forms of osteogenesis imperfecta have been described. The perinatally lethal forms (type II of Sillence) have been subclassified into groups A, B and C on the basis of radiological features. This report describes a case of type IIA.
  
  
  METHODS
  A female Congolese baby was born at term to healthy, non-consanguineous parents. No ultrasonographic studies were done during the pregnancy. The newborn suffered from acute respiratory distress at birth. Clinical examination showed bone abnormalities: shortened and bowed limbs with crepitation at mobilization, soft calvaria and narrow rib cage. X-rays showed short, broad, bowed long bones with signs of fractures; the ribs were thin and beaded; wormian bones were seen in the skull. The newborn died from respiratory distress at the age of 5 hours. All clinical and X-rays investigations of the parents, the elder brother and cousins were normal.
  
  
  CONCLUSIONS
  This baby seems to have suffered from a lethal form of osteogenesis imperfecta, probably type IIA of Sillence.
authors.affiliation: Services de Pédiatrie du Centre Hospitalier Universitaire de Brazzaville, Congo.
authors.forename: G
authors.initials: G
authors.lastname: Moyen
authors.forename: J L
authors.initials: JL
authors.lastname: Nkoua
authors.forename: M
authors.initials: M
authors.lastname: Pongui
authors.forename: A M
authors.initials: AM
authors.lastname: Mafouta
authors.forename: S
authors.initials: S
authors.lastname: Nzingoula
mesh_terms: D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000150:complications / Q000151:congenital; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology
vernacular_title: Ostéogenèse imparfaite létale chez un nouveau-né Congolais.