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

نویسندگان

چکیده

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

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ژورنال

عنوان ژورنال: The journal of pediatric academy

سال: 2022

ISSN: ['2718-0875']

DOI: https://doi.org/10.51271/jpea-2022-194