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October-December 2016 | Vol. 9 | Issue 4 | Page No 2-4
Leri-Weill Dyschondrosteosis Caused by SHOX GeneDeletion: A Case Report
Bharti Singh and Shubha R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
Address for Correspondence Email: shubharaophadke@gmail.com
Leri-Weill dyschondrosteosis is a dominantly inherited skeletal dysplasia characterized by the classic triad of short stature, mesomelia and Madelung wrist deformity, which is caused by mutation in the SHOX gene. We report the case of a 14 years old girl with short stature and forearm deformity, with radiographic evidence of bilateral bowing of the radius and Madelung deformity. Multiplex Ligation Probe Amplification (MLPA) with the probe set for subtelomeric deletions showed deletion of the SHOX gene. The patient’s mother also had short stature with limb shortening with predominant involvement of the mesomelic segments. The association of short stature with typical X ray abnormalities with SHOX deletion suggested the diagnosis of Leri Weill dyschondrosteosis. We recommend careful clinical and radiological evaluation and use of MLPA in the diagnostic work up of girls with short stature if the karyotype is found to be normal.
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