Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to detective left-right axis determination. The concurrence of these two abnormalities has been reported only once in the literature. We report a similar phenotype in two unrelated patients. Documentation of this specific combination of Marfanoid habitus and abnormal situs gives further credence to the notion that the combination may represent a distinct syndrome.
|Number of pages||3|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - 2004 Jun 1|
- Marfan syndrome
- Situs ambiguus
- Situs inversus
ASJC Scopus subject areas