Kent T Yamaguchi1, Jennifer B Salem1, Karen S Myung1, Antonio N Romero2, David L Skaggs3. 1. Children's Orthopaedic Center, Children's Hospital of Los Angeles, 4650 W Sunset Boulevard, Mailstop #69, Los Angeles, CA 90027, USA. 2. Department of Orthopaedics, LAC/USC Medical Center, 1200 N. State Street, GNH 3900, Los Angeles, CA 90033, USA. 3. Children's Orthopaedic Center, Children's Hospital of Los Angeles, 4650 W Sunset Boulevard, Mailstop #69, Los Angeles, CA 90027, USA. Electronic address: DSkaggs@chla.usc.edu.
Abstract
STUDY DESIGN: Cross-sectional analysis. OBJECTIVES: To evaluate the prevalence of scoliosis and kyphosis in patients with Russell-Silver syndrome (RSS). SUMMARY OF BACKGROUND DATA: Russell-Silver syndrome was described by Silver and Russell in the 1950s and 1960s and is characterized by body asymmetry and other growth abnormalities. To the authors' knowledge, this is the first study to evaluate the prevalence of scoliosis and kyphosis in patients with Russell Silver Syndrome. METHODS: The authors performed a cross-sectional analysis of 163 persons, identified through a national RSS foundation, who consented to be included in the study and responded to a general survey questionnaire. Subjects who reported a diagnosis of scoliosis and/or kyphosis were subsequently asked to submit copies of prior spinal radiographs for evaluation at the authors' center. For evaluation of scoliosis and kyphosis on the radiographs, the researchers reviewed posteroanterior and lateral standing radiographs to measure coronal and sagittal Cobb angles. RESULTS: Of 163 respondents, 24 (14%) reported scoliosis, 5 (3.1%) reported kyphosis, and 6 (3.8%) reported both kyphosis and scoliosis, with average age of diagnosis of 8 years (range, 1-43 years). Of these respondents, 6 reported a history of bracing for scoliosis and/or kyphosis and 3 braced respondents reported having had surgery for scoliosis and/or kyphosis. An additional 3 respondents reported that corrective spinal surgery was "planned for the future." CONCLUSIONS: Persons with RSS have a high prevalence of spinal deformity (21%) and a significant number of these patients will undergo corrective surgery (6 of 34; 18%).
STUDY DESIGN: Cross-sectional analysis. OBJECTIVES: To evaluate the prevalence of scoliosis and kyphosis in patients with Russell-Silver syndrome (RSS). SUMMARY OF BACKGROUND DATA: Russell-Silver syndrome was described by Silver and Russell in the 1950s and 1960s and is characterized by body asymmetry and other growth abnormalities. To the authors' knowledge, this is the first study to evaluate the prevalence of scoliosis and kyphosis in patients with Russell Silver Syndrome. METHODS: The authors performed a cross-sectional analysis of 163 persons, identified through a national RSS foundation, who consented to be included in the study and responded to a general survey questionnaire. Subjects who reported a diagnosis of scoliosis and/or kyphosis were subsequently asked to submit copies of prior spinal radiographs for evaluation at the authors' center. For evaluation of scoliosis and kyphosis on the radiographs, the researchers reviewed posteroanterior and lateral standing radiographs to measure coronal and sagittal Cobb angles. RESULTS: Of 163 respondents, 24 (14%) reported scoliosis, 5 (3.1%) reported kyphosis, and 6 (3.8%) reported both kyphosis and scoliosis, with average age of diagnosis of 8 years (range, 1-43 years). Of these respondents, 6 reported a history of bracing for scoliosis and/or kyphosis and 3 braced respondents reported having had surgery for scoliosis and/or kyphosis. An additional 3 respondents reported that corrective spinal surgery was "planned for the future." CONCLUSIONS:Persons with RSS have a high prevalence of spinal deformity (21%) and a significant number of these patients will undergo corrective surgery (6 of 34; 18%).
Authors: Emma L Wakeling; Frédéric Brioude; Oluwakemi Lokulo-Sodipe; Susan M O'Connell; Jennifer Salem; Jet Bliek; Ana P M Canton; Krystyna H Chrzanowska; Justin H Davies; Renuka P Dias; Béatrice Dubern; Miriam Elbracht; Eloise Giabicani; Adda Grimberg; Karen Grønskov; Anita C S Hokken-Koelega; Alexander A Jorge; Masayo Kagami; Agnes Linglart; Mohamad Maghnie; Klaus Mohnike; David Monk; Gudrun E Moore; Philip G Murray; Tsutomu Ogata; Isabelle Oliver Petit; Silvia Russo; Edith Said; Meropi Toumba; Zeynep Tümer; Gerhard Binder; Thomas Eggermann; Madeleine D Harbison; I Karen Temple; Deborah J G Mackay; Irène Netchine Journal: Nat Rev Endocrinol Date: 2016-09-02 Impact factor: 43.330