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Transcript
Leri-Weill dyschondrosteosis
Sung Soo Kim, M.D. • Jong Ill Kwak, M.D.
Department of Orthopaedic Surgery, College of Medicine,
Dong-A University, Busan, Korea
CC: Left wrist deformity
F / 12Y
PHx: N-C
FHx: Mother & her brother-similar deformities on both
wrists
P/E
Left wrist: prominent
dorsal dislocated ulna
head, ulna deviation of
the hand, ROM—WNL
P/E
Short stature (150 cm,
25 percentile) with
mild mesomelic
shortening
RADIOGRAPHY
Radial inclination 35˙
Radial inclination 47˙
RADIOGRAPHY
MRI
MRI
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
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
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
Splint & NSAID
Osteotomy of the distal radius & ulnar
recession
E/F with radius osteotomy & lengthening
Epiphyseodesis
Epiphysiolysis with fat interposition
Distal radioulnar joint arthrodesis with distal
ulnar pseudoarthrosis
Ulnar resection + radius corrective osteotomy
Leri-Weill dyschondrosteosis
A skeletal dysplasia with mesomelic short stature
and Madelung deformity
Cubitus valgus, coxa valga
Genu varum, ankle valgus
Leri-Weill dyschondrosteosis
SHOX (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
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 SHOX: 15%
Leri-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 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
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)
Caused by mutations in the SHOX gene.
The more severe LMD results from the
homozygous loss of SHOX
DIFFERENTIAL DIAGNOSIS
Traumatic distal radius physeal arrest
Congenital anatomic variant
Multiple exostosis
Ollier disease
Turner syndrome
Noonan's syndrome
Turner 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
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
Thank you
for
your attention