Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type.
Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the Rolland-Desbuquois type is presented. The case is unusual because although it was the milder form, the child died on the 10th day of life.
d'Orey
M C
MC
Neonatal Intensive Care Unit, Department of Paediatrics, Hospital of S. Jõao, Oporto Medical School, Porto, Portugal.
Mateus
M
M
Guimarães
H
H
Miguel
C
C
Costeira
M J
MJ
Nogueira
R
R
Montenegro
N
N
Santos
N T
NT
Maroteaux
P
P
D000015:Abnormalities, Multiple / Q000145:classification / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011859:Radiography; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging*