[Spondylo-costal dysostosis. Description of a case and review of the literature].
The Authors describe a case of spondylocostal dysostosis. The infant, born from consanguineous Caucasian parents, showed at birth marked shortening of the trunk and neck. Radiographic examination revealed severe congenital anomalies of the entire spine, associated with secondary deformities of the ribs. A review of literature's cases, with differential diagnosis and pathogenetic hypothesis, is also reported.
Porcelli
F
F
Sezione Patologia Neonatale, Ospedale Vittore Buzzi, Milano, Italia.
Trifirò
G
G
Taccone
F
F
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013902:Radiography, Thoracic; D012272:Ribs / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013909:Thorax / Q000002:abnormalities*
Disostosi spondilo-costale. Descrizione di un caso e revisione della letteratura.