Annals of the Rheumatic Diseases, 1984; 43, 275-284

A family with multiple musculoskeletal abnormalitiesK. E. BARBER,' P. J. GOW,1 AND K. M. MAYO2*

From the Departments of 'Rheumatology and 'Radiology, Middlemore Hospital, Auckland, New Zealand

SUMMARY A family with multiple musculoskeletal abnormalities is reported. The disorder ischaracterised by platyspondyly, abnormality of the upper femoral epiphyses, and the developmentof precocious osteoarthritis. It is proposed that this family represents an example of autosomaldominantly inherited spondyloepiphyseal dysplasia tarda (SED tarda).

This study was initiated by the admission to hospitalof a 54-year-old woman (11-6, Fig. 1) for her secondtotal hip joint replacement. The marked degree ofcartilage loss in many joints, and the presence of astrong family history of musculoskeletal abnor-malities, prompted a detailed study of other familymembers.

Patients and methods

All living affected and many unaffected family mem-

I

R Oi1 2 3 14

1 2 3 4 5 6 7 8 9 11 1213

IV X

OFEMALEOMALE

Fig. 1 Pedigree offamily.

bers were interviewed and examined. Examinationincluded measurement of height and upper and lowerbody segments. A standing lateral x-ray of thethoracic and lumber spine to screen for platyspondylywas performed.

Results

The mean height (164 cm) was the same in both theaffected and unaffected groups. However, allaffected family members had a shorter trunk and

*-AFFECTEDUPROBABLY AFFECTEDNOT EXAIvNED

Accepted for publication 5 April 1983.Correspondence to Dr P. J. Gow, Middlemore Hospital, Otahuhu,Auckland 6, New Zealand.*Deceased September 1981.

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Table 1 Summary of clinical findings

Subject Age (yr) Joints involved Age of Additional informationonset (yr)

I-1 Died 65 Spine, hips, shoulders 20 Post-mortem 'Arthritis most marked in spine'11-3 Died 47 Back, hips, knees, shoulders 20

6 54 Back, hips, knees, shoulders 3 Bilateral total hip joint replacement8 46 Hips 15 L total hip joint replacement

111-6 23 Back, hips 3 'Perthes's disease'8 18 Back, hips, knees 2 Osteochondritis dissecans L knee

21 29 Hips, shoulders, elbows 2 Bilateral congenital hip disiocation, bilateraltotal hip joint replacement, osteochondritisdissecans R elbow

23 26 Back, hips 624 27 Hips, knees, elbows 3 Traumatic synovitis R hip and knee31 23 Back, hips, elbow 5 Osteochondritis dissecans L elbow34 15 Hips 4

longer lower limbs than those not affected, with areduced upper- to lower-body segment ratio (mean0-83 against 0-95).The clinical findings in affected family members

are summarised in Table 1. Bilateral hip pain invari-ably occurred, and symptoms in the back, knees,shoulders, and elbows also featured prominently.The age of onset of symptoms ranged from 2 to 20years, and most of the affected people had beennoted to have a stiff gait prior to the onset of pain.

Subject 111-6 had been treated for presumedPerthes's disease during childhood, subject 111-21was treated for bilateral congenital dislocation of thehip, and subject 111-24 was diagnosed as havingtraumatic synovitis of the right hip and knee whenaged 3 years. Bone fragments resulting from osteo-chondritis dissecans had been surgically removedfrom subjects 111-8, III-21, and 111-31.

Physical examination revealed restriction ofmovement in affected joints with no associated extra-skeletal features.X-rays of the spine in all living affected members

showed platyspondyly (Fig. 2), whereas those lackingsymptoms had normal vertebral bodies, includingsubject 111- 1 3, a young woman who had been treatedfor scoliosis in childhood with the insertion of a Har-rington rod but did not have any other joint symp-toms. Hip x-rays of affected individuals in childhoodshowed irregularity of the femoral heads (Fig. 3) andin adulthood the development of degenerativechanges (Fig. 4). X-rays of other painful joints in thepropositus showed degenerative changes (Figs. 5, 6)in sites not usually affected by primary osteoarthritis.

Discussion

The findings presented are consistent with a diag-nosis of dominantly inherited spondyloepiphysealdysplasia tarda. SED tarda has been reported as hav-

Fig. 2 Subject 111-6. Age 23 years. Lateral view ofthoracic spine showing platyspondylv.

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A family with multiple musculoskeletal abnormalities 277

Fig. 5 Subject II-6. Age 50 years. Anteroposterior view ofleft shoulder showing severe loss ofjoint cartilage andflattening of the humeral head.

Fig. 3 Subject III-34. Age 10years. Anteroposterior view ofpelvis showing the abnormal

"i contour ofboth upper femoralepiphyses.

Fig. 4 Subject 11-6. Age 53 years.Anteroposterior view ofpelvisshowing severe loss of hip jointcartilage.

ing 3 modes of transmission. The X-linked recessiveform was the first mode, described by Maroteaux etal.' More recently both autosomal recessive' andautosomal dominant2` forms have been described.The latter are similar to the family presented, withautosomal dominant inheritance, and skeletalchanges are usually limnited to the vertebrae and proxi-mal epiphyses. There is mild truncal shortening,with little kyphosis or dwarfing. Symptoms areusually noted between the fourth and tenth years oflife, when affected persons complain of hip pain andmay have a stiff gait. Ocular abnormalities, thoughnot present in the reported family, have beendescribed.'X-rays show 'platyspondyly, particularly in the

thoracic region, with wedgzing of the vertebral bodies,but not the mound of dense bone in the central andposterior portions of the flattened vertebrae whichcharacterises the recessive form of SED tarda.Irregularities of the proximal epiphyses, most com-monly the upper femoral epiphyses, are usuallypresent, with progressive deformity and thedevelopment of degenerative changes. The shorttubular bones may or may not be affected.

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Fig. 6 Subject 11-6. Age 50 years.X-ray ofhands showingmoderately severe degenerativechanges.

The development of precocious osteoarthritis isnot an uncommon problem. When spondylo-epiphyseal involvement predominates, the different-ial diagnosis includes spondyloepiphyseal dysplasiacongenita, Morquio's disease and other muco-polysaccharidoses, chondrodysplasia punctata,Dyggve-Melchior-Clausen dysplasia, hypothy-roidism, and Kashin-Beck disease.These entitiesare well defined, usually presenting with develop-mental abnormalities in childhood. Multipleepiphyseal dysplasia, which is almost always inher-ited as an autosomal dominant, presents in a similarmanner to SED tarda, but x-rays of the spine showthat changes, if present, are confined to the edges ofthe vertebral bodies without any effect on vertebralheight, and there is prominent involvement of thedistal as well as the proximal skeleton.

This study illustrates the importance of the familyhistory in determining the cause of degenerative ar-thritis when it occurs in unusual sites or at a youngage. Although epiphyseal dysplasias are relativelyuncommon, awareness of their place in the differen-

tial diagnosis of osteoarthritis may well prevent theinappropriate treatment of musculoskeletal com-plaints, particularly in childhood.We are grateful to Dr R. J. M. Gardner for his helpful comments andto Mrs D Gould for typing the manuscript.

References

1 Maroteaux P, Lamy M, Bernard J. La dysplasie spon-dyloepiphysaire tardive. Presse Med 1957; 65: 1205-8.

2 Spranger J, Langer L 0. Spondyloepiphyseal dysplasias. BirthDefects 1974; 10: 19-61.

3 Moldauer M, Hanelin J, Bauer W. Familial precocious degenera-tive arthritis and the natural history of osteochondrodystrophy.In: Blumenthal H T, ed.Medical and clinical aspects ofaging. NewYork: Columbia University Press. 1962: 226-33.

4 Rubin P. Modelling errors of the epiphysis. In: Dynamic classifi-cation ofthe bone dysplasias. Chicago: Year Book Medical Pub-lishers, 1964: 106.

5 Carter C 0, Sutcliffe J. Genetic varieties of spondyloepiphysealdysplasia. In: Jellife A M, Stickland B, eds. Symposium ossium.Edinburgh: Livingstone, 1970: 218-24.

6 Diamond L S. A family study of spondyloepiphyseal dysplasia. JBone Joint Surg 1970; 52A: 1587-94.

7 MacDessi J J, Kozlowski K, Posen S. Spondyloepiphyseal dys-plasia with ocular changes. Pediatr Radiol 1978; 7: 220-8.

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