Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313202447> ?p ?o ?g. }
Showing items 1 to 63 of
63
with 100 items per page.
- W4313202447 endingPage "136" @default.
- W4313202447 startingPage "135" @default.
- W4313202447 abstract "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." @default.
- W4313202447 created "2023-01-06" @default.
- W4313202447 creator A5040851809 @default.
- W4313202447 creator A5057671844 @default.
- W4313202447 creator A5074792144 @default.
- W4313202447 date "2022-12-23" @default.
- W4313202447 modified "2023-10-14" @default.
- W4313202447 title "Wrist radiography for hand bone age tells a lot; a girl with SHOX deficiency" @default.
- W4313202447 doi "https://doi.org/10.51271/jpea-2022-194" @default.
- W4313202447 hasPublicationYear "2022" @default.
- W4313202447 type Work @default.
- W4313202447 citedByCount "0" @default.
- W4313202447 crossrefType "journal-article" @default.
- W4313202447 hasAuthorship W4313202447A5040851809 @default.
- W4313202447 hasAuthorship W4313202447A5057671844 @default.
- W4313202447 hasAuthorship W4313202447A5074792144 @default.
- W4313202447 hasBestOaLocation W43132024471 @default.
- W4313202447 hasConcept C105702510 @default.
- W4313202447 hasConcept C126838900 @default.
- W4313202447 hasConcept C187212893 @default.
- W4313202447 hasConcept C2777871287 @default.
- W4313202447 hasConcept C2778047097 @default.
- W4313202447 hasConcept C2778216619 @default.
- W4313202447 hasConcept C2779982284 @default.
- W4313202447 hasConcept C2781083543 @default.
- W4313202447 hasConcept C36454342 @default.
- W4313202447 hasConcept C54355233 @default.
- W4313202447 hasConcept C71924100 @default.
- W4313202447 hasConcept C86803240 @default.
- W4313202447 hasConcept C89551170 @default.
- W4313202447 hasConceptScore W4313202447C105702510 @default.
- W4313202447 hasConceptScore W4313202447C126838900 @default.
- W4313202447 hasConceptScore W4313202447C187212893 @default.
- W4313202447 hasConceptScore W4313202447C2777871287 @default.
- W4313202447 hasConceptScore W4313202447C2778047097 @default.
- W4313202447 hasConceptScore W4313202447C2778216619 @default.
- W4313202447 hasConceptScore W4313202447C2779982284 @default.
- W4313202447 hasConceptScore W4313202447C2781083543 @default.
- W4313202447 hasConceptScore W4313202447C36454342 @default.
- W4313202447 hasConceptScore W4313202447C54355233 @default.
- W4313202447 hasConceptScore W4313202447C71924100 @default.
- W4313202447 hasConceptScore W4313202447C86803240 @default.
- W4313202447 hasConceptScore W4313202447C89551170 @default.
- W4313202447 hasIssue "3" @default.
- W4313202447 hasLocation W43132024471 @default.
- W4313202447 hasOpenAccess W4313202447 @default.
- W4313202447 hasPrimaryLocation W43132024471 @default.
- W4313202447 hasRelatedWork W1859286557 @default.
- W4313202447 hasRelatedWork W2039772952 @default.
- W4313202447 hasRelatedWork W2053175510 @default.
- W4313202447 hasRelatedWork W2065736651 @default.
- W4313202447 hasRelatedWork W2078090074 @default.
- W4313202447 hasRelatedWork W2989151571 @default.
- W4313202447 hasRelatedWork W3022717142 @default.
- W4313202447 hasRelatedWork W3037466018 @default.
- W4313202447 hasRelatedWork W3145634470 @default.
- W4313202447 hasRelatedWork W4238961491 @default.
- W4313202447 hasVolume "3" @default.
- W4313202447 isParatext "false" @default.
- W4313202447 isRetracted "false" @default.
- W4313202447 workType "article" @default.