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SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

Authors :
Gianpaolo Di Rosa
Francesca Verna
Raffaele Buganza
Luisa de Sanctis
Silvia Vannelli
Daniele Tessaris
Alberto Borraccino
Maria Baffico
Giulia Vinci
Source :
Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-6 (2020), Italian Journal of Pediatrics
Publication Year :
2020

Abstract

Background The phenotypic features of SHOX deficiency (SHOX-D) are highly variable and can be very mild, especially in young children. The aim of this retrospective study was to evaluate auxological and radiological indicators that could be predictive of SHOX-D in children. Methods Molecular analysis of the SHOX gene was performed in 296 subjects with growth impairment or skeletal disproportion, without alternative diagnosis. Auxological variables and radiographs of the hand, wrist and forearm were evaluated. Results SHOX mutations (88% inherited, 12% de novo) were identified in 52 subjects. The most predictive auxological indicators of SHOX-D were an increased sitting height/height ratio and a decreased arm span/height ratio. The convexity of distal radial metaphysis at X-ray, not yet reported in literature, was also found to be predictive of SHOX-D. In young children, stratification of data by bone age also highlighted ulnar tilt, lucency of the ulnar border of the distal radius and enlarged radius as the radiological signs most related to SHOX-D . Conclusions In this study, the analysis of auxological and radiological indicators in SHOX-D children allowed to identify an additional early radiological sign and underlines the importance of family auxological evaluation.

Details

ISSN :
18247288
Volume :
46
Issue :
1
Database :
OpenAIRE
Journal :
Italian journal of pediatrics
Accession number :
edsair.doi.dedup.....8aff3c23a4bbe1361802c6fb07d6f27e