Marfanoid habitus with abnormal situs.
Marfanoid habitus suggests abnormal microfibril formation, whereas a situs ambiguus or situs inversus phenotype points to defective 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.
Kosaki
Kenjiro
K
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@sc.keio.ac.jp
Bird
Lynne M
LM
Maeda
Jun
J
Higuchi
Masataka
M
Jones
Marilyn C
MC
Matsumoto
Morio
M
D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging / Q000473:pathology*; D012857:Situs Inversus / Q000000981:diagnostic imaging / Q000473:pathology*; D014057:Tomography, X-Ray Computed