Total situs inversus associated with the oculo-auriculo-vertebral spectrum.
A patient is reported with the association of the oculo-auriculo-vertebral spectrum and situs inversus. Conditions with overlapping features and previously reported conditions associated with the oculo-auriculo-vertebral spectrum are reviewed. These conditions, as well as the reported association of the oculo-auriculo-vertebral spectrum and situs inversus can probably be seen as a part of the mesodermal malformation spectrum, due to an early abnormality in the development of the primitive streak or embryonic mesoderm.
Maat-Kievit
J A
JA
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Baraitser
M
M
Winter
R M
RM
D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D007223:Infant; D008168:Lung / Q000002:abnormalities*; D008297:Male; D011859:Radiography; D012857:Situs Inversus / Q000000981:diagnostic imaging*; D013131:Spine / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging