title: Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type.
abstract: 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.
authors.affiliation: Neonatal Intensive Care Unit, Department of Paediatrics, Hospital of S. Jõao, Oporto Medical School, Porto, Portugal.
authors.forename: M C
authors.initials: MC
authors.lastname: d'Orey
authors.forename: M
authors.initials: M
authors.lastname: Mateus
authors.forename: H
authors.initials: H
authors.lastname: Guimarães
authors.forename: C
authors.initials: C
authors.lastname: Miguel
authors.forename: M J
authors.initials: MJ
authors.lastname: Costeira
authors.forename: R
authors.initials: R
authors.lastname: Nogueira
authors.forename: N
authors.initials: N
authors.lastname: Montenegro
authors.forename: N T
authors.initials: NT
authors.lastname: Santos
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
mesh_terms: 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*