Wrist radiography for hand bone age tells a lot; a girl with SHOX deficiency

Madelung's deformity (MD) occurs as a result of premature closure of the medial and volar aspects of the distal radial physis.1 It is more frequent and severe in girls, and usually develops in middle/late childhood.2 MD is one of the most characteristic features of he short-stature homeobox gene (SHOX) deficiency, which causes short stature3. Radial bowing is one of the  well-known radiological futures. On the other hand, there are three typical radiological sign of the hand radiograph for SHOX deficiency; triangularization, pyramidalization of the os lunatum, and radiolucency at the distal radius4.      In the evaluation of a 9-year-old girl who was investigated for precocious puberty, her height measurement was 18th percentile. On the wrist X-ray taken for the determination of the bone age of the patient, there was an appearance compatible with MD (Figure 1). In the genetic studies of the patient with MD, normal female karyotyping (46, XX) was demonstrated by Trypsin G banding Technique. Heterozygous SHOX deletion was detected by Fluorescence In Situ Hybridization technique using a probe specific to the SHOX gene region (Xp22.33).      Interpreting the direct X-ray is important in recognizing the MD. Thus, it will be easier to detect SHOX gene deletion in the etiology of short stature patients with this deformity

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease