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Abstract

January to March 2019 | Vol. 12 | Issue 1 | 06-08
Genetic and Radiographic Profile of a Family with Osteopoikilosis
Dr Katta M Girisha
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal - 576104, India
Address for Correspondence Email: girish.katta@manipal.edu
 
Abstract
Osteopoikilosis is a rare condition of bones inherited in an autosomal dominant manner caused by mutations in LEMD3. It is characterized by sclerotic bone lesions in the epiphyses and metaphyses of long tubular bones, carpal bones, tarsal bones, pelvis, and scapulae (Serdaroglu et al., 2007). Individuals with osteopoikilosis are usually asymptomatic and often diagnosed incidentally through radiographs done for other medical conditions (fractures, joint dislocations, etc). Here we report the case of a 19 years old male with generalized back pain and radiographic evidence of multiple hyperostotic spots throughout the skeleton. The mother of the proband also had similar radiographic findings. A heterozygous pathogenic variant in LEMD3 is identified to be the cause of osteopoikilosis in them.
 
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