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Year : 2000  |  Volume : 10  |  Issue : 4  |  Page : 267-268
Dysplasia epiphysealis multiplex


Dept. of Radiology, Lady Hardinge Medical College and Smt. Sucheta Kriplani Hospital, New Delhi, India

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How to cite this article:
Yadav P, Narula M. Dysplasia epiphysealis multiplex. Indian J Radiol Imaging 2000;10:267-8

How to cite this URL:
Yadav P, Narula M. Dysplasia epiphysealis multiplex. Indian J Radiol Imaging [serial online] 2000 [cited 2019 Jun 20];10:267-8. Available from: http://www.ijri.org/text.asp?2000/10/4/267/30581
Sir,

We wish to submit a very interesting and unusual case of dysplasia epiphysealis multiplex. A six-years-old girl was sent for radiographs of the knee joints with a clinical suspicion of old rickets. The radiographs showed genualgum with flattened epiphysis of the upper end of the tibia, more on the lateral aspect. The margins were crenated. Epiphyseal dysplasia was suspected.

Physical examination revealed short stature, genu valgum and an equinus deformity, which was present since birth.

Skeletal survey was obtained. The hip radiographs showed flattening of the epiphyses of the femoral heads. The shoulder radiographs showed flattening of the epiphyses of the humeral heads. The ankle joints also showed flattening of the epiphyses of the lower end of the tibia, more on the lateral aspect. The skull, hands and spine were normal. The feet showed an equinus deformity, which was present since birth.

This suggested a diagnosis of dysplasia epiphysealis multiplex (DEM). The serum biochemistry was within normal limits.

The differential diagnosis of Perthe's disease and hypothyroidism was kept in mind. Since there were no subchondral fractures and other epiphyses i.e. of knee joints were also involved, Perthe's was ruled out. Perthe's is a rare finding in females. The bony age of the child and the biochemistry were normal, ruling out hypothyroidism

Dysplasia epiphysealis multiplex occurs due to the failure of the epiphyses to ossify normally. The radiological picture consists of delayed appearance of the epiphyses and irregular and flattened epiphyses [5]. Barrington Ward first described dysplasia epiphysealis multiplex in 1912 [2]. Fairbank gave the present term of DEM. Multiple epiphyseal dysplasias are more commonly caused by dominant mutations in COMP (EDM1, McKausick 132400) and Col 9A2 genes [1].

The epiphyses commonly affected are those of the hips, knees, shoulders and ankles and less frequently the elbows and the wrists. Irregularities of the vertebral column are also reported but less frequently. As growth continues varying degree of deformity may persist. The diaphyses of the long bones are usually normal. The metaphyseal ends may widen due to pressure effect. The hip joints are always affected. Gross fragmentation of the femoral heads with irregular acetabular roofs may be seen. Flattening of the condyles with obliteration of the intercondylar notches may be seen at the knee joint. At the ankles, lateral wedging of the lower tibial epiphyses and corresponding deformity of the talus may occur. Congenital talipes equinovarus may sometimes be present [1]. In shoulder joints, the proximal humeral epiphyses tend to be flattened and rotated. The tubular bones of the hands are short and stubby. The vertebral column is affected in about 26% of patients [5] and the changes may resemble those seen in Schueurmann's disease. Our patient showed most of the radiological features of DEM, but the hands and spines were not affected. The spine is usually affected in the later ages i.e. after 14-15 years of age.

The disease is said to be of familial and hereditary nature by most of the authors. However in the case of our patient, no other family member was affected [1]. The disease is self-limiting however secondary osteoarthritic changes may occur in adult patients. The patients remain dwarves to variable degrees.

 
   References Top

1.Superti-Furga A, Neumann L, Riebel T, et al . Recessively inherited multiple epiphyseal dysplasia with normal stature, clubfoot and double layered patella caused by a DTDST mutation. J Med Genet 1999; 36: 621-624.   Back to cited text no. 1    
2.Barrington-Ward LE. Double Coxa Vara with other deformities occurring in brother and sister. Lancet 1912; 1: 157-159.   Back to cited text no. 2    
3.Guilluame T. Du Toit. Hip Disease of Mselini Clin Orth. 1979; 141: 223-236.   Back to cited text no. 3    
4.Kozlowski K, Lipska E. Hereditary Dysplasia Epiphysealis Multiplex. Clin Radiol 1967; 18: 330-336.   Back to cited text no. 4  [PUBMED]  
5.Humad S, Narula M, Bery K, Chawla S. Dysplasia epiphysealis multiplex. Indian Journal of Radiol 1982; 36: 3  Back to cited text no. 5    

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Correspondence Address:
Pankaj Yadav
Dept. of Radiology, Lady Hardinge Medical College and Smt. Sucheta Kriplani Hospital, New Delhi
India
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Source of Support: None, Conflict of Interest: None


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