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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한소아내분비학회 Annals of Pediatirc Endocrinology & Metabolism Annals of Pediatirc Endocrinology & Metabolism 제20권 제3호
- 발행연도
- 2015.1
- 수록면
- 162 - 165 (4page)
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초록· 키워드
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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.
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참고문헌 (19)
참고문헌 신청
Belin V / 1998 / SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) / Nat Genet 19 : 67 ~ 69
Binder G / 2003 / Auxolog y is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature / J Clin End
Binder G / 2004 / SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity / J Cli
Binder G. / 2011 / Short stature due to SHOX deficiency: genotype, phenotype, and therapy / Horm Res Paediatr 75 : 81 ~ 89
Blaschke RJ / 2000 / SHOX: growth, Leri-Weill and Turner syndromes / Trends Endocrinol Metab 11 : 227 ~ 230
Binder G / 2003 / Auxolog y is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature / J Clin End
Binder G / 2004 / SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity / J Cli
Binder G. / 2011 / Short stature due to SHOX deficiency: genotype, phenotype, and therapy / Horm Res Paediatr 75 : 81 ~ 89
Blaschke RJ / 2000 / SHOX: growth, Leri-Weill and Turner syndromes / Trends Endocrinol Metab 11 : 227 ~ 230
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