Ann Pediatr Endocrinol Metab.  2024 Jun;29(3):201-203. 10.6065/apem.2346236.118.

Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency

• Kang J
• Kim MJ
• Yoo S
• Cheon CK

• KMID: 2556677
• DOI: http://doi.org/10.6065/apem.2346236.118

Figure

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  Fig. 1. Wrist radiographs of both hands. Madelung deformity is shown: There are bowing and shortening of radius (black arrow), pyramidalization of carpus (white dotted inverted triangle), lucent ulnar side of distal radius (white hollow arrow) and triangularization of the distal radial epiphysis (black dotted triangle).

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  Fig. 2. Sanger sequencing confirmation of the heterozygous mutation of SHOX gene.

Reference

References

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