Abstract

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility and progressive spinal malalignment. SEMDJL can lead to profound disability with potentially fatal spinal and pulmonary complications in early childhood. Most cases of SEMDJL die during the first decade of life due to cardiorespiratory failure. We report a case of a 25-year-old female with disproportionate short stature who presented with severe painful bunions of the distal first metatarsophalangeal joint.

Introduction

Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a distinctive form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility and progressive spinal malalignment.¹ It is inherited as an autosomal recessive trait.² SEMDJL has previously been reported almost exclusively in Afrikaans-speaking South Africans.³ But this condition has also been reported in non-Afrikaan patients also.⁴ SEMDJL can lead to profound disability with potentially fatal spinal and pulmonary complications in early childhood.¹ Beighton et al analyzed clinical manifestations of 18 affected persons in 13 families of the Afrikaans-speaking community of South Africa and it was evident that survival into adulthood is unusual.² Tsirikos et al reported a patient with SEMDJL, who presented with all the characteristic orthopedic manifestations of the disorder and required multiple operative procedures and has the longest reported follow-up and survival into adulthood with a favorable outcome.¹ In view of the severe clinical and genetic implications, diagnostic precision is of vital importance, particularly since the disorder is currently believed to be more common than initially reported.¹ With regards to the orthopedic management of multiple joint dislocations and ligamentous laxity of the large joints, awareness of this disease entity and diagnostic precision solely-based on radiological findings is of importance, particularly as the disorder is currently more common than initially reported.⁵

Case Report

A 25-year-old female presented with severe painful bunions of the distal first metatarsophalangeal joint. She was born at 42 weeks of gestation with no history of complications during delivery. At birth, she was found to have bilateral dislocation of the hips and bilateral clubfeet. Casts were applied to the feet and hips for the first 13 months of age at another hospital. Her developmental milestones were delayed. She could walk without any help at the age of 20 months. When she was seven-year-old, she underwent a posterior spine fusion with halo traction from T1 through L4. After one month, she had an occipital to C3 fusion at another hospital. She was diagnosed as a case of diastrophic dwarfism. When she was around 12 years of age, she underwent augmentation of the posterior spine fusion. A Milwaukee brace was also used. A bilateral intertrochanteric varus osteotomy was done at 17 years of age (Fig. 1). She underwent derotational osteotomies of bilateral tibia for valgus recurvatum deformities at 23 years of age (Fig. 2). On examination, her height was 111.6 cm and she weighted 34.6 kg. The eyes and teeth were normal, but the palate was high. Neck was about 10in flexion and extension. On both sides, the hip was in 25flexion contracture. Elbows showed flexion contractures with minimal ability to pronate and supinate the forearms. There was obvious laxity in the joints of her hands and fingers. Examination of the feet showed bilateral pes planus, marked hallux valgus with tender bunions on the distal first metatarsophalangeal joints.

She had a waddling gait. Neurological examinations were intact. She had mild mental retardation.

Her parents were unrelated, nonconsanguineous. There was no family history of any disproportionate short stature or any intrinsic bone dysplasia. Her two siblings were healthy.

Discussion

The spondyloepimetaphysealdysplasias (SEMD) are a heterogeneous group of disorders comprising more than 20 distinct entities, all defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities.⁶ The condition was first described in 1980 by Beighton and Kozlowski in Cape Town, South Africa who first described seven patients with a distinctive form of SEMD with joint laxity and severe scoliosis.⁷ A comprehensive genealogical investigation undertaken in eight families in the Afrikaans-speaking community of South Africa found that all eight families had ancestral links with two females. These women had multiple marriages and cohabitations during the late 17th and early 18th centuries and they were 12 generations removed from the affected individuals. The identification of these common progenitors confirmed the syndromic homogeneity of SEMDJL in South Africa.⁸ The diagnosis of SEMDJL is either based on the specificity of the skeletal manifestations or on the presence of characteristic extraskeletal features which may appear during the course of the disease, highlighting the importance of follow-up of SEMD patients. The presenting symptom of SEMD patients is usually disproportionate short stature.⁶ The clinical manifestations of SEMDJL are described in Table 1. The radiographic features of 19 patients with SEMDJL were reviewed. The salient, diagnostic radiographic manifestations were found to be mildto- moderate SEMD, progressive infantile kyphoscoliosis, characteristic pelvic, forearm and elbow changes and a highly abnormal bony trabecular pattern.⁹ 

Kim et al have presented seven cases of a rare but distinctive form of SEMD with joint laxity-leptodactylic or Hall type to emphasize the characteristic clinical and radiological findings. The notable clinical features were short stature, midface hypoplasia and multiple dislocations and/or ligamentous laxity of the large joints, particularly at the knees with a genu valgum or varum deformity. Of seven patients, six patients showed normal intellect but one patient had mild mental retardation. The main radiological features included small, irregular epiphyses, metaphyseal irregularity with vertical striations (a constant finding at the knees), constricted femoral necks, delayed ossification of the carpal bones and slender metacarpals. Progressive thoracolumbar scoliosis was evident with aging; however, the vertebral bodies appeared normal in height or mild platyspondyly was noted.⁵ The complications are variable but epiphyseal dysplasia is often a predominant feature, and the course of the disease is marked by premature osteoarthritis.⁶ SEMDJL has to be differentiated clinically from generalized hypermobility syndromes specifically Ehlers-Danlos syndrome and Larsen syndrome. The radiographic differential diagnosis is with the group of SEMD specifically SEMD with joint laxity and sponastrime dysplasia.¹⁰ Most cases of SEMDJL die during the first decade of life due to cardiorespiratory failure. Early posterior and/or anterior spinal fusion must be considered if there is progression of kyphoscoliosis despite bracing. Fusion in situ is preferable. Atlantoaxial instability, which measures >5 mm, calls for posterior surgical stabilization sometimes including fusion to the occiput. Intertrochanteric varus osteotomy, tibial osteotomy, etc. may be indicated.

References

1. Tsirikos AI, Mason DE, Scott CI Jr, et al. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). Am J Med Genet A 2003;119A(3):386-90.
2. Beighton P, Gericke G, Kozlowski K, et al. The manifestations and natural history of spondylo-epimetaphyseal dysplasia with joint laxity. Clin Genet 1984;26(4):308-17.
3. Christianson AL, Beighton P. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates. Genet Couns 1996;7(3):219-25.
4. Pina-Neto JM, Defino HL, Guedes ML, et al. Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case. Am J Med Genet 1996;61(2):131-3.
5. Kim OH, Cho TJ, Song HR, et al. A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. Skeletal Radiol 2009;38(8):803-11.
6. Cormier-Daire V. Spondylo-epi-metaphyseal dysplasia. Best Pract Res ClinRheumatol 2008;22(1):33-44.
7. Beighton P, Kozlowski K. Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis. Skeletal Radiol 1980;5(4):205-12.
8. Torrington M, Beighton P. The ancestry of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in South Africa. Clin Genet 1991;39(3):210-3.
9. Kozlowski K, Beighton P. Radiographic features of spondylo-epimetaphyseal dysplasia with joint laxity and progressive kyphoscoliosis. Review of 19 cases. Rofo 1984;141(3):337-41.
10. Sulko J, Kozlowski K. Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review. J PediatrOrthop B 2008;17(6):323-7.