PED0003:[转帖]MED

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             multiple epiphyseal dysplasia   
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          chee y, nayagam s, carty h
           queen margaret hospital

clinical summary ：
a seven-year-old boy, born with bilateral congenital talipes equino varus,
persented for
a follow-up after corrective surgery. a radiographic diagnosis of multiple epiphyseal
dysplasia was made.

clinical history and imaging procedures ：
a seven-year-old boy was born with bilateral congenital talipes equino varus.
in the follow-up exam following corrective surgery, he was found to be unable to make
a proper fist with either hand. there was no flexion of the metacarpophalangeal joints
and limited flexion of the interphalangeal joints. x-rays which were taken showed
flattened epiphyses of all phalanges. hip x-rays showed a similar
appearance of the proximal femoral epiphyses together with femoral
neck varus deformity.

discussion ：
multiple epiphyseal dysplasia (med) is a condition characterized by the
delay in the appearance of the epiphyses, flattened, fragmented symmetric
epiphyseal formation, mild short stature and early-onset osteoarthritis.
it is dominantly inherited. mutations have been found in chromosome 19.
the prevalence, as reported by a danish study, is 9.0 per 100,000.
med can occur at various sites, e.g., the vertebral bodies, but the
proximal femur is the most commonly affected and the condition
can easily be confused with perthes disease. the upper limbs are
less involved and the formation of carpal ossification centres are
delayed. med is clinically and genetically heterogenous. 6 causative genes
of med have been reported. the diagnosis of med can be made from the
decreased plasma level of comp (cartilage oligomeric matrix protein), a
glycoprotein found around chondrocytes. dominant med was originally
divided into ribbing&#39；s
dysplasia, which is a mild type, and fairbank&#39；s dysplasia, which is a more
severe type. however, much more clinical variability exists within the overall med
phenotype than
is suggested by these two distinct entities. individuals with med resulting from
comp mutations have significant involvement at the capital femoral epiphyses
and irregular acetabuli. individuals with med from matn3 mutations have knee
abnormalities that are similar to those in affected individuals with
col9a2 mutations. both these are not as severe as in the comp
mutations. the pathology involves the development of the epiphyseal
ossification centres. endochondral ossification is disorganized and the
epiphyseal cartilage cells are irregular. the articular cartilage is initially
normal but becomes misshapen during the course of the patient&#39；s life
because of the lack of an underlying osseous support. the articular
deformities are permanent, with degenerative changes and osteoarthritis
developing in early adult life. diagnosis is not made until later in childhood.
affected children may complain of joint stiffness, pain, a limp or may have a
waddling gait. the child has minimal short stature, stubby fingers and toes.
there may be a flexion contracture of the elbows or the knees. intelligence
is not affected. the differential diagnosis includes perthes disease, mild
spondyloepiphyseal dysplasia and pseudoachondroplasia. rarely is surgery
needed in early childhood. osteotomies are helpful in correcting the angular
deformities. total joint replacement may be needed in the patients whose hips
are severely affected with osteoarthritis.

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                       多发性骨骺<

ayi

学习！

whz1765

搂主真是有心人，学习！

whz1765

我看到照片中小孩的性腺有防护，不知道我们又有多少人能够做到，我听说我现在在国外的朋友说，如果遇到小孩子不配合的时候，一般都是技师穿着防护衣在摆体位。觉得好敬业。

拾荒者

要能像楼主那样看外文资料就好了，谢谢！在放射防护方面我们确实应该做得更好一些！

jinguoji

med---学习了,谢谢!

andymaomao

thank you，padrone！aegis greatest！