PURPOSE: Cases of "non-idiopathic" scoliosis are deemed atypical. These require a comprehensive work-up in order to choose the best treatment (and to determine an extent of fusion if needed). Marfan syndrome (MFS) is a genetic disease often marked with the presence of scoliosis, which is poorly described in the literature. Knowing that the clinical diagnosis of MFS is not always obvious, we investigated how atypical the scoliosis associated with MFS was when compared with that of adolescent idiopathic scoliosis (AIS). METHODS: In our series, we included 30 patients diagnosed with MFS. Each patient was proposed to undergo a plain radiographic examination of the spine. Scoliotic patients were classified according to the Scoliosis Research Society (SRS) curve pattern classification. Curve patterns with a very low rate of occurrence in historic control were defined as "atypical". RESULTS: A total of 19 patients were defined as scoliotic. In 9 cases, the curve pattern was atypical. In the other 10, the curve pattern was typical, but a fine analysis revealed some atypical features in the position of the apex and end vertebrae. CONCLUSIONS: Scoliosis associated with MFS was found to be atypical in all cases. This supports the idea that an atypical curve pattern should be considered as an argument in favour of a non-idiopathic aetiology and, therefore, an appropriate work-up should be performed before deciding treatment.
PURPOSE: Cases of "non-idiopathic" scoliosis are deemed atypical. These require a comprehensive work-up in order to choose the best treatment (and to determine an extent of fusion if needed). Marfan syndrome (MFS) is a genetic disease often marked with the presence of scoliosis, which is poorly described in the literature. Knowing that the clinical diagnosis of MFS is not always obvious, we investigated how atypical the scoliosis associated with MFS was when compared with that of adolescent idiopathic scoliosis (AIS). METHODS: In our series, we included 30 patients diagnosed with MFS. Each patient was proposed to undergo a plain radiographic examination of the spine. Scoliotic patients were classified according to the Scoliosis Research Society (SRS) curve pattern classification. Curve patterns with a very low rate of occurrence in historic control were defined as "atypical". RESULTS: A total of 19 patients were defined as scoliotic. In 9 cases, the curve pattern was atypical. In the other 10, the curve pattern was typical, but a fine analysis revealed some atypical features in the position of the apex and end vertebrae. CONCLUSIONS:Scoliosis associated with MFS was found to be atypical in all cases. This supports the idea that an atypical curve pattern should be considered as an argument in favour of a non-idiopathic aetiology and, therefore, an appropriate work-up should be performed before deciding treatment.
Authors: H C Dietz; G R Cutting; R E Pyeritz; C L Maslen; L Y Sakai; G M Corson; E G Puffenberger; A Hamosh; E J Nanthakumar; S M Curristin Journal: Nature Date: 1991-07-25 Impact factor: 49.962
Authors: Zhaoyang Liu; Amro A Hussien; Yunjia Wang; Terry Heckmann; Roberto Gonzalez; Courtney M Karner; Jess G Snedeker; Ryan S Gray Journal: Elife Date: 2021-07-28 Impact factor: 8.140