[Lethal osteogenesis imperfecta in a Congolese newborn infant].
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.
Moyen
G
G
Services de Pédiatrie du Centre Hospitalier Universitaire de Brazzaville, Congo.
Nkoua
J L
JL
Pongui
M
M
Mafouta
A M
AM
Nzingoula
S
S
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
Ostéogenèse imparfaite létale chez un nouveau-né Congolais.