Skeletal Deformity Associated with SHOX Deficiency

SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature...

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Published inClinical Pediatric Endocrinology Vol. 23; no. 3; pp. 65 - 72
Main Authors Seki, Atsuhito, Jinno, Tomoko, Suzuki, Erina, Takayama, Shinichiro, Ogata, Tsutomu, Fukami, Maki
Format Journal Article
LanguageEnglish
Published Japan The Japanese Society for Pediatric Endocrinology 01.07.2014
Subjects
chondrocyte
Leri-Weill dyschondrosteosis
Madelung deformity
Review
short stature
Vickers ligament
Vickers ligament
short stature
Leri-Weill dyschondrosteosis
chondrocyte
Madelung deformity
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Abstract SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity.
AbstractList SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2-16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity.
SHOX haploinsufficiency due to mutations in the coding exons or microdeletions involving the coding exons and/or the enhancer regions accounts for approximately 80% and 2–16% of genetic causes of Leri-Weill dyschondrosteosis and idiopathic short stature, respectively. The most characteristic feature in patients with SHOX deficiency is Madelung deformity, a cluster of anatomical changes in the wrist that can be attributed to premature epiphyseal fusion of the distal radius. Computed tomography of SHOX-deficient patients revealed a thin bone cortex and an enlarged total bone area at the diaphysis of the radius, while histopathological analyses showed a disrupted columnar arrangement of chondrocytes and an expanded hypertrophic layer of the growth plate. Recent studies have suggested that perturbed programmed cell death of hypertrophic chondrocytes may underlie the skeletal changes related to SHOX deficiency. Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity. Blood estrogen levels and mutation types have been proposed as phenotypic determinants of SHOX deficiency, although other unknown factors may also affect clinical severity of this entity.
Author Jinno, Tomoko
Ogata, Tsutomu
Fukami, Maki
Takayama, Shinichiro
Suzuki, Erina
Seki, Atsuhito
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  fullname: Suzuki, Erina
  organization: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
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  organization: Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan
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  fullname: Fukami, Maki
  organization: Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
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Keywords Vickers ligament
short stature
Leri-Weill dyschondrosteosis
chondrocyte
Madelung deformity
Language English
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Title Skeletal Deformity Associated with SHOX Deficiency
URI https://www.jstage.jst.go.jp/article/cpe/23/3/23_9992/_article/-char/en
https://www.ncbi.nlm.nih.gov/pubmed/25110390
https://search.proquest.com/docview/1552807221
https://pubmed.ncbi.nlm.nih.gov/PMC4125598
Volume 23
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ispartofPNX Clinical Pediatric Endocrinology, 2014, Vol.23(3), pp.65-72
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