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. 2024 Jun;29(3):201-203.
doi: 10.6065/apem.2346236.118. Epub 2024 Jun 30.

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

Jaebeen Kang  1 , Min-Ji Kim  1 , Sukdong Yoo  1 , Chong Kun Cheon  1
Affiliations

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

Jaebeen Kang et al. Ann Pediatr Endocrinol Metab. 2024 Jun.
No abstract available

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Conflict of interest statement

Conflicts of interest

No potential conflict of interest relevant to this article was reported.

Figures

Fig. 1.
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).
Fig. 2.
Fig. 2.
Sanger sequencing confirmation of the heterozygous mutation of SHOX gene.
See this image and copyright information in PMC

References

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    1. Heath K. Leri-Weill dyschondrosteosis [Internet]. Quincy (MA): National Organization for Rare Disorders (NORD); 2020 [cited 2023 Jul 10]. Available from: https://rarediseases.org/rare-diseases/leriweilldyschondrosteosis/
    1. Blum WF, Ross JL, Zimmermann AG, Quigley CA, Child CJ, Kalifa G, et al. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial. J Clin Endocrinol Metab. 2013;98:E1383–92. - PubMed
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