Indian Journal of Radiology Indian Journal of Radiology  

   Login   | Users online: 1306

Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size     


OSTEOLOGY Table of Contents   
Year : 2003  |  Volume : 13  |  Issue : 2  |  Page : 199-203
Spondyloepiphyseal dysplasia : An evaluation of six cases

Department of Radio Diagnosis and Imaging, Kasturba Medical College and Hospital, Manipal-576119, India

Click here for correspondence address and email


Six cases of spondyloepiphyseai dysplasia tarda that we came across over a period of one year during our routine reporting of plain radiographs are presented. Inheritance, characteristic skeletal abnormalities and possible differential diagnosis are discussed. The characteristic skeletal changes are more commonly seen in the spine and pelvis, even though other epiphyses can also be involved.

Keywords: Spondyloepiphyseal dysplasia

How to cite this article:
Lakhar B N, Raphael R. Spondyloepiphyseal dysplasia : An evaluation of six cases. Indian J Radiol Imaging 2003;13:199-203

How to cite this URL:
Lakhar B N, Raphael R. Spondyloepiphyseal dysplasia : An evaluation of six cases. Indian J Radiol Imaging [serial online] 2003 [cited 2020 Dec 4];13:199-203. Available from:

   Introduction Top

Spondyloepiphyseal dyspasia is characterized by disproportionate dwarfism with progressive involvement of the spine and epiphysis of long bones. There are two major types; the congenital type is detectable at birth, while a milder tarda type presents later in childhood or adolescence.

Here we present six cases of spondyloepiphyseal dysplasia tarda diagnosed by clinical and radiological evaluation. In our series most of the characteristic skeletal changes were observed in the spine and pelvis. Three patients showed familial inheritance and others were isolated cases.

   Materials and Methods Top

Radiographs of six patients, four males and two females that came to our attention over a period of one year during the reporting of plain radiographs, between February 2002 and March 2003 were analysed. All available patients were screened radiologically to evaluate other sites of skeletal involvement. Biochemical investigations performed included thyroid and growth hormone assays and other metabolic parameters.

   Case report Top


A twenty two year old man presented with low back ache since the age of twenty . On clinical examination he had a barrel shaped chest and a short trunk. There was spinal tenderness at the lower lumbar vertebrae. Neurological examination and hormonal analyses were normal. Radiographs of the lumbar spine showed gross platyspondyly with mounds of bone in the central and posterior parts of the superior and inferior endplates [Figure - 1],[Figure - 2]. But, the rest of the epiphyses were found to be normal in the skeletal survey.


A twenty year old man, brother of case 1 came to the orthopedic outpatient clinic with complaints of low back ache .His spine was markedly shortened, but no obvious kyphosis or scoliosis was seen. Routine blood tests were normal. Radiographs of the thoracolumbar spine showed platyspondyly and bony mounds in the posterior parts of the superior and inferior endplates. Lumbar disc spaces appeared narrowed with vacuum phenomenon in the lower lumbar discs.


A twelve year old boy, cousin brother of the above described patients, came to our hospital for evaluation of short stature. He was complaining of pain in the back after sitting for a long time and after exercise. On clinical examination he had slight reduction in hip movements, barrel shaped chest and a short trunk. Thyroid and growth hormonal assays were normal. Radiographs of the thoracolumbar vertebrae showed platyspondyly with anterior tongue like projections. The Iliac blades were small. Radiographs of the hands showed retardation of bone age and small and irregular ulnar epiphyses [Figure - 3]. Rest of the epiphyses were normal in the skeletal survey.


A Fifteen-year-old girl came to the hospital with complaints of pain in both hips and abnormal gait. She had painful limitation of hip movements. Pelvic radiograph showed irregular mottling of femoral epiphyses with irregular femoral articular surface. Iliac blades were characteristically small. Radiographs of the thoracolumbar spine showed platyspondyly with anterior beaking.

Case 5

A seven year old female patient presented with abnormal gait . On clinical examination she had bilateral pes planus and exaggerated lumbar lordosis. Bilateral femoral capital epiphyses were flattened and sclerosed [Figure - 4]. Acetabular margins also showed irregularity and sclerosis. Initially a diagnosis of Perthes disease was made based on radiograph of the pelvis. Radiographs of the thoracolumbar vertebrae showed flattening with anterior beaking. Cervical vertebrae also showed platyspondyly [Figure - 5].


A thirteen year old boy presented with pain in bilateral hips and limping since one year. Principal abnormalities on examination were short stature with particular shortening of the spine in relation to the limbs. Radiographs of the pelvis showed flattening of the femoral heads with lucent areas in the femoral head and neck. There was irregularity and sclerosis of the acetabular margins. Thoracolumbar vertebrae showed bony mounds in the central and posterior aspects of endplates. There was irregularity of the superior and inferior endplates of the lumbar vertebrae.

   Observations and Results Top

The detailed clinico-radiological observations of these patients are recorded in [Table - 1].

Six patients were evaluated based on skeletal findings, four were males and two were females. The age group ranged from 7 to 22 years. The most common complaint in our series was low backache followed by gait abnormalities, pain in the hip joints and short stature. Vertebrae showed platyspondyly in five patients and anterior beaking in three patients. Mounds of bone noted in the superior and posterior part of vertebral body were seen in three male patients. Femoral epiphyses were dysplastic in three patients. One of them showed small and irregular ulnar epiphyses with delayed bone age. These findings are summed up in [Table - 2].

   Discussion Top

Spondylo epiphyseal dysplasia (SED) refers to osteochondrodystrophies whose principle skeletal features are deformation of vertebrae together with distortion of the epiphyseal regions at the ends of long bones[1]

Initially heredity was described as X linked but in later reports both autosomal dominant and autosomal recessive transmission have been demonstrated [2].

Spondyloepiphyseal dysplasia tarda is one of the several conditions that may result from structural defects in type II collagen.[3],[4]. SED tarda is not recognized at birth, but becomes apparent as the growth of the child slows in mid childhood or adolescence.

The first symptoms are usually backpain of a vague pattern, while at a later stage osteoarthritis of the large proximal joints develop. In the present series the most common type of presentation was back ache (3 patients), gait abnormalities(2 patients) and pain in the hip and difficulty in walking( 1 patient).One patient only came with primary complaint of short stature, eventhough physical examination of other patients also showed reduced height.

The cardinal radiographic features of spine are platyspondyly with mounds of dense bone in the central and posterior parts of the superior and inferior vertebral end plates. There is no posterior hump of bone in the autosomal dominant and the recessive conditions. However it is the absence of ossification at the upper and lower anterior margins of the vertebral bodies giving rise to anterior beaking is considered to be the distinctive radiographic finding[1],[5]. In our study platyspondyly was noticed in five patients mounds of bone in three patients and anterior beaking in three patients.

Mild scoliosis becomes apparent in adolescence and the disc spaces become narrowed and calcification and vacuum phenomena in these narrowed disc spaces show disc degeneration. The pelvis has a deep narrow configuration with small iliac wings and long pubic and ischial bones.The acetabulae are deep and show premature degenerative changes. The femoral heads show irregularity of the articular surfaces.In the present series three patients had small iliac wings and three patients showed dysplastic femoral epiphyses.

Mild dysplastic changes have been described in other large joints. In the knees the medial condyles of the distal femora are flattened with reduction in the contour of the intercondylar notch. Shoulder joints are less commonly affected. Odontoid hypoplasia or os odontoideum may cause atlanto axial instability, but is more common in the congenital type [6]. In our series most of the dysplastic changes were limited to the spine and pelvis, one patient showed small and dysplastic ulnar epiphyses.

The differential diagnosis of spondyloepiphyseal dysplasia tarda is principally from the mucopolysaccharidoses and from other bone dysplasias affecting the spine. Among the mucopolysaccharidoses only type IV ( Morquio-Brailsford disease More Details) gives a superficially similar appearance. The characteristic features of mucopoly sacharidosis like joint laxity in particular of the atlantoaxial region, coxa valga, corneal clouding, cardiac and visceral involvement, and mucopolysaccariduria helps to exclude this consition from other dysplasias [5]. No metabolic abnormality has so far been described in spondyloepiphyseal dysplasia tarda.

The epiphyseal abnormalities which occur in multiple epiphyseal dysplasia (MED) and SED may appear similar radiographically. But MED is distinguished by the absence of severe vertebral changes.The disc spaces are usually preserved, but some endplate irregularities may be present [7].

Radiographically these dysplasias may be confused with Legg Calve Perthes disease. However in spondyloepiphyseal dysplasia the involvement is symmetrical, while in bilateral perthes disease involvemnt is discordant with one hip more radiographically affected than the other. Abnormalities of other epiphysis, platyspondyly and narrowed disc spaces of spine help to establish the correct diagnosis [8].

Pseudoachondroplastic dysplasias also present with dwarfism, with flattening of the vertebral bodies and central tongue like projection and premature arthritis of joints. But in pseudoachondroplastic dysplasias, long bone radiographs demonstrate both epiphyseal and metaphyseal involvement [9].

   References Top

1.Michael P. Whyte, Gary S.Gottesman, Mark C.Eddy and William H.McAlister, X-Linked recessive spondyloepiphyseal dysplasia tarda. Medicine1999; 78:9-25.  Back to cited text no. 1    
2.Kim Schantz, Paul Erik Andersen Jr and Per Justesen, Spondyloepiphyseal dysplasia tarda- Report of a family with autosomal dominant transmission.Acta Orthop Scand 1988; 59(6): 716-719.  Back to cited text no. 2    
3.Agi K Gedon, Alison Colley, Robyn Jamieson et al. Identification of gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. Nature Genetics 1999;22:400-404.  Back to cited text no. 3    
4.BrendanLee, HenrikVissing, Francesco Ramirez, David Rogers, David Rimoin, Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 1989;244 :978-979.  Back to cited text no. 4    
5.P.S.Harper, P.Jenkin and K.M.Laurence. Spondyloepiphyseal dysplasia tarda: a report of four cases in two families. British Journal of Radiology1973; 46:676-684.  Back to cited text no. 5    
6.W.Reardon, C.M.Hall, D.G.Shaw, B.Kendall, Hayward and R.M.Winter, New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlantoaxial instability. American Journal of Medical Genetics 1994; 52:432-437.  Back to cited text no. 6    
7.AlvinH.Felman, multiple epiphyseal dysplasia -three cases with unusual vertebral abnormalities. Radiology 1969; 93: 119-125.  Back to cited text no. 7    
8.Tachdjian's Paediatric Orthopaedics, 3rdedn. Philadelphia: W.B.Saunder's company, 2002. Page 1527-1530.  Back to cited text no. 8    
9.Rothemon and simione, The spine, 4th edition, W.B.Saunders Company Page310-311.  Back to cited text no. 9    

Correspondence Address:
B N Lakhar
Department of Radio Diagnosis and Imaging, Kasturba Medical College and Hospital, Manipal-576119
Login to access the Email id

Source of Support: None, Conflict of Interest: None

Rights and PermissionsRights and Permissions


[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]


[Table - 1], [Table - 2]

This article has been cited by
1 No skeletal dysplasia in the nariokotome boy KNM-WT 15000 (homo erectus) - A reassessment of congenital pathologies of the vertebral column
Schiess, R. and Haeusler, M.
American Journal of Physical Anthropology. 2013; 150(3): 365-374
2 A case of short stature with anterior vertebral beaking
Kulkarni, K.P. and Panigrahi, I.
Indian Journal of Human Genetics. 2011; 17(1): 33-34


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  

    Materials and Me...
    Case report
    Observations and...
    Article Figures
    Article Tables

 Article Access Statistics
    PDF Downloaded0    
    Comments [Add]    
    Cited by others 2    

Recommend this journal