Thoracic-pelvic dysostosis.
We report a third patient, a female, with thoraco-pelvic dysostosis. This rare disorder is similar in phenotypic and radiographic appearances to thoraco-laryngo-pelvic dysplasia (Barnes syndrome). The only major difference between these two diseases is absence of laryngeal involvement in thoraco-pelvic dysplasia. They may represent two different entities or a contiguous gene syndrome.
Marik
I
I
Centre for Patients with Defects of the Locomotor System, Praha, Czech Republic.
Grochova
J
J
Kozlowski
K
K
D000293:Adolescent; D004413:Dysostoses / Q000000981:diagnostic imaging / Q000473:pathology*; D005260:Female; D006801:Humans; D010388:Pelvis / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013909:Thorax / Q000002:abnormalities*