leri-weill dyschondrosteosis department of orthopaedic surgery, college of medicine, dong-a...
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Leri-Weill dyschondrosteosis Leri-Weill dyschondrosteosis
Department of Orthopaedic Surgery, College of Medicine, Dong-A University, Busan, Korea
Sung Soo Kim, M.D. • Jong Ill Kwak, M.D.
CC: Left wrist deformity CC: Left wrist deformity
F / 12Y
PHx: N-C
FHx: Mother & her brother--similar deformities on both wrists
Madelung deformity Madelung deformity Developmental abnormality of the wrist
Anatomic changes in the radius, ulna, and carpal bones, leading to palmar and ulnar wrist subluxation
More common in female patients and is usually present bilaterally
Evident clinically between the ages of 6 and 13 years
Madelung deformity Madelung deformity
Growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities
The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist
Madelung deformity Madelung deformity Often is associated with additional
clinical abnormalities, particularly delayed puberty and menstrual disorders, as well as sexual chromosome aberrations
Aesthetic deformity, functional problems, pain
Corrective surgical procedures
Tx of Madelung deformity Tx of Madelung deformity Splint & NSAIDOsteotomy of the distal radius & ulnar recessionE/F with radius osteotomy & lengtheningEpiphyseodesisEpiphysiolysis with fat interpositionDistal radioulnar joint arthrodesis with distal ul
nar pseudoarthrosis Ulnar resection + radius corrective osteotomy
Leri-Weill dyschondrosteosis Leri-Weill dyschondrosteosis
A skeletal dysplasia with mesomelic short stature and Madelung deformity
Cubitus valgus, coxa valga
Genu varum, ankle valgus
Leri-Weill dyschondrosteosisLeri-Weill dyschondrosteosisSHOX (short stature homeobox-containing gene)
SHOX plays a role in chondrocyte function in the growth plate
Deletions & point mutations lead to haploinsufficiency
Autosomal dominant inherited
SHOX haploinsufficiency have been found in LWD and in a variable proportion of patients with idiopathic short stature (ISS)
Leri-Weill dyschondrosteosis Leri-Weill dyschondrosteosis Defects in SHOX have been identified in approximately 60% of
LWD cases
Whereas, in the remaining approximately 40% the molecular basis is unknown
This suggests either genetic heterogeneity or the presence of mutations in unanalyzed regions of SHOX, such as the upstream, intragenic, or downstream regulatory sequences
PAR 1(Pseudoautosomal region 1) deletions downstream of S
HOX: 15%
Leri-Weill dyschondrosteosisLeri-Weill dyschondrosteosis
Abnormalities in the growth plate may lead to short stature and skeletal deformity including Leri Weill syndrome
Which has been shown to result from deletions or mutations in the SHOX gene, a homeobox gene located at the pseudoautosomal region of the X and Y chromosome
Leri-Weill dyschondrosteosisLeri-Weill dyschondrosteosis
At final height females were 14.4 cm shorter and males 5.3 cm shorter than normal siblings (135-170 cm)
SHOX haploinsufficiency leads to short arms in 92%, bilateral Madelung deformity in 73% and short stature in 54%
Females were more severely affected than males
Leri-Weill dyschondrosteosis Leri-Weill dyschondrosteosis
Growth failure occurred during the first year of life
Children with a severe degree of wrist deformity were significantly shorter than those with mild deformities.
24 months of rhGH was a safe and effective therapy and the effect of GH therapy varied between individuals
Langer mesomelic dysplasia (LMD)
Langer mesomelic dysplasia (LMD)
Caused by mutations in the SHOX gene.
The more severe LMD results from the homozygous loss of SHOX
DIFFERENTIAL DIAGNOSIS DIFFERENTIAL DIAGNOSIS
Traumatic distal radius physeal arrestCongenital anatomic variantMultiple exostosisOllier disease Turner syndrome Noonan's syndrome
Turner syndromeTurner syndrome
Swelling of foot & hand
Cubitus valgus, genu valgum
Short stature, scoliosis
Clinical clues to the diagnosis of SHOX haploinsufficiency in childhood include short stature, short limbs, wrist changes, and tibial bowing.
Noonan's syndrome Noonan's syndrome
Craniofacial anomalies, i.e. ptosis, webbing of the neck and a deep nuchal hairline
Skeletal deformities such as short stature, clinodactyly, pectus carinatum and funnel chest
Other organ anomalies, mainly cardiac valve disease, less often testicular retention or kidney malformations
Madelung like deformity of the wrist