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. 2020 Nov 3;46(1):163.
doi: 10.1186/s13052-020-00927-z.

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

Silvia Vannelli  1   2 , Maria Baffico  3 , Raffaele Buganza  4   5   6 , Francesca Verna  4   5 , Giulia Vinci  4   5 , Daniele Tessaris  4   5 , Gianpaolo Di Rosa  7 , Alberto Borraccino  5 , Luisa de Sanctis  4   5
Affiliations

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

Silvia Vannelli et al. Ital J Pediatr. .

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.

Keywords: Convexity of distal radial metaphysis; Growth impairment; SHOX.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Radiological features in SHOX deficiency. I: triangularization of the distal radial epiphysis, II: lucency of the ulnar border of the distal radius, III: enlarged diaphysis of radius plus bowing of radius, IV: Short 4th and 5th metacarpal, V: pyramidalization of the carpal row, VI: convexity of distal radial metaphysis
Fig. 2
Fig. 2
Diagnostic algorithm for SHOX mutation screening in children with growth impairment, obtained integrating literature data [5] and results of our study. Note: The absence of the reported signs does not rule out the diagnosis of SHOX deficiency, especially in very young children
See this image and copyright information in PMC

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