Ann Pediatr Endocrinol Metab.  2015 Sep;20(3):162-165. 10.6065/apem.2015.20.3.162.

A Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of SHOX gene

• Choi WB
• Seo SH
• Yoo WH
• Kim SY
• Kwak MJ

• KMID: 2150393
• DOI: http://doi.org/10.6065/apem.2015.20.3.162

Abstract

Leri-Weill dyschondrosteosis is characterized by SHOX deficiency, Madelung deformity, and mesomelic short stature. In addition, SHOX deficiency is associated with idiopathic short stature, Turner syndrome, and Langer mesomelic dysplasia. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by SHOX gene mutation analysis in Korea. The patient, who was a 7-year-old female, showed short stature. Her height and weight were 108.9 cm (<3rd percentile) and 19.7 kg (5th-10th percentile), respectively. Her arm span, height of trunk, leg length, and sitting length were 100.5 cm, 58 cm, 50.9 cm, and 62.5 cm, respectively. Her body proportion was 1.13:1. Extremities to trunk ratio was 2.61. Her hand radiograph showed Madelung deformity. And the growth hormone stimulation test showed a normal response. Furthermore, because of Madelung deformity with idiopathic short stature, she was suspected of SHOX deficiency. We performed SHOX gene mutation analysis and found a c.491G>A (p.W164X) mutation of the SHOX gene. Accordingly, this patient was diagnosed with Leri-Weill dyschondrosteosis. Recently, many mutations have been reported in the SHOX gene. However, to date, mutation analysis of the SHOX gene for Leri-Weill dyschondrosteosis has not been reported in Korea as yet. We report the first case of a Leri-Weill dyschondrosteosis patient confirmed by mutation analysis of the SHOX gene.

Keyword

Leri-Weill dyschondrosteosis; Madelung deformity; Idiopathic short stature

MeSH Terms

Arm
Child
Congenital Abnormalities
Extremities
Female
Growth Hormone
Hand
Humans
Korea
Leg
Turner Syndrome
Growth Hormone

Figure

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  Fig. 1 Left hand radiograph. Bone age determined by the Greulich-Pyle method was 5 years 9 months (chonological age was 7 years 2 months). Madelung deformity is shown: triangularization of the distal radial epiphysis, and lucent ulnar side of distal radius (arrow).

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  Fig. 2 Partial genomic DNA sequencing of the SHOX gene of the patient: heterogygous mutation of c.491G>A (p.W164X) in the SHOX gene.

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