title: Marfanoid habitus with abnormal situs.
abstract: 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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan. kkosaki@sc.keio.ac.jp
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Bird
authors.forename: Jun
authors.initials: J
authors.lastname: Maeda
authors.forename: Masataka
authors.initials: M
authors.lastname: Higuchi
authors.forename: Marilyn C
authors.initials: MC
authors.lastname: Jones
authors.forename: Morio
authors.initials: M
authors.lastname: Matsumoto
mesh_terms: 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