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Skeletal Deformity Associated with SHOX Deficiency.

Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M - Clin Pediatr Endocrinol (2014)

Bottom Line: 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.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.Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity.

View Article: PubMed Central - PubMed

Affiliation: Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan.

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.

No MeSH data available.


Related in: MedlinePlus

Forearm three-dimensional computed tomography of a female patient withSHOX deficiency. Significant findings include shortening of theradius, pyramidal configuration of the carpal bones and dorsal subluxation of the ulnain addition to severely disturbed structural organization of the elbow joint.
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fig_002: Forearm three-dimensional computed tomography of a female patient withSHOX deficiency. Significant findings include shortening of theradius, pyramidal configuration of the carpal bones and dorsal subluxation of the ulnain addition to severely disturbed structural organization of the elbow joint.

Mentions: Madelung deformity in a female patient with SHOX deficiency. Upperpanel: appearance of the forearm. Prominence of the distal ulna is shown. Lower panel:radiographic findings. Shortening and bowing of the radius and dorsal subluxation ofthe ulnar head are shown.


Skeletal Deformity Associated with SHOX Deficiency.

Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M - Clin Pediatr Endocrinol (2014)

Forearm three-dimensional computed tomography of a female patient withSHOX deficiency. Significant findings include shortening of theradius, pyramidal configuration of the carpal bones and dorsal subluxation of the ulnain addition to severely disturbed structural organization of the elbow joint.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4125598&req=5

fig_002: Forearm three-dimensional computed tomography of a female patient withSHOX deficiency. Significant findings include shortening of theradius, pyramidal configuration of the carpal bones and dorsal subluxation of the ulnain addition to severely disturbed structural organization of the elbow joint.
Mentions: Madelung deformity in a female patient with SHOX deficiency. Upperpanel: appearance of the forearm. Prominence of the distal ulna is shown. Lower panel:radiographic findings. Shortening and bowing of the radius and dorsal subluxation ofthe ulnar head are shown.

Bottom Line: 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.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.Furthermore, the formation of an aberrant ligament tethering the lunate and radius has been implicated in the development of Madelung deformity.

View Article: PubMed Central - PubMed

Affiliation: Department of Orthopedic Surgery, National Center for Child Health and Development, Tokyo, Japan.

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.

No MeSH data available.


Related in: MedlinePlus