Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 310-312 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 127 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - 2004 Jun |
Keywords
- Marfan syndrome
- Scoliosis
- Situs ambiguus
- Situs inversus
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
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