Raisa Altaf Malik


ABSTRACT:Skeletal disorders are common entities that we encounter in our daily practice. Their earlydiagnosis is key to proper management and genetic counselling. Spondyloepiphyseal dysplasiais one such disorder. It is a genetic bone deformity that affects the spine, proximal epiphysisand pelvis. The disease is either manifested at birth or during adolescence therefore given theterms SED congenita or SED tarda. Patients with SED present with variable features includingshort height, short neck, club foot, cleft palate, kyphoscoliosis or lordotic abnormalities. Wealso present a case of an 11-year-old boy who presented to us with complaints of stunted growthand abnormal posture and underwent radiological imaging.

Full Text:




MacKenzie, J. J., Fitzpatrick, J., Babyn, P., Ferrero, G. B., Ballabio, A., Billingsley, G., ... &

Costa, T. (1996). X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular

study of a large kindred. Journal of medical genetics, 33(10), 823-828.

Harper, P. S., Jenkins, P., & Laurence, K. M. (1973). Spondyloepiphyseal dysplasia tarda: a

report of four cases in two families. The British Journal of Radiology, 46(549), 676-684.

Bannerman, R. M., Ingall, G. B., & Mohn, J. F. (1971). X-linked spondyloepiphyseal dysplasia

tarda: clinical and linkage data. Journal of medical genetics, 8(3), 291.

Kocyigit, H., Arkun, R., Ozkinay, F., Cogulu, O., Hizli, N., & Memis, A. (2000).

Spondyloepiphyseal dysplasia tarda with progressive arthropathy. Clinical

Rheumatology, 19(3).

Iceton, J. A., & Horne, G. E. O. F. F. R. E. Y. (1986). Spondylo-epiphyseal dysplasia tarda. The

X-linked variety in three brothers. The Journal of Bone and Joint Surgery. British Volume, 68(4),


Whyte, M. P., Gottesman, G. S., Eddy, M. C., & McAlister, W. H. (1999). X-Linked Recessive

Spondyloepiphyseal Dysplasia Tarda Clinical and Radiographic Evolution in a 6-Generation

Kindred and Review of the Literature. Medicine, 78(1), 9-25.

Gedeon, A. K., Tiller, G. E., Le Merrer, M., Heuertz, S., Tranebjaerg, L., Chitayat, D., ... &

Mulley, J. C. (2001). The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. The

American Journal of Human Genetics, 68(6), 1386-1398. Cao, L. A., & Bennett, J. T. (2023). Spondyloepiphyseal Dysplasia. In Orthopaedics for the

Newborn and Young Child: A Practical Clinical Guide (pp. 241-245). Cham: Springer

International Publishing.

Veeravagu, A., Lad, S. P., Camara-Quintana, J. Q., Jiang, B., & Shuer, L. (2013). Neurosurgical

interventions for spondyloepiphyseal dysplasia congenita: clinical presentation and

assessment of the literature. World Neurosurgery, 80(3-4), 437-e1.

Gembun, Y., Nakayama, Y., Shirai, Y., Miyamoto, M., Sawaizumi, T., & Kitamura, S. (2001). A

case report of spondyloepiphyseal dysplasia congenita. Journal of Nippon Medical

School, 68(2), 186-189.

Bal, S., Kocyigit, H., Turan, Y., Gurgan, A., Bayram, K. B., Güvenc, A., ... & Dirim, B. (2009).

Spondyloepiphyseal dysplasia tarda: four cases from two families. Rheumatology

International, 29, 699-702.

Tiller, G. E. (2020). X-linked spondyloepiphyseal dysplasia tarda. GeneReviews®[Internet].

Tabban, H., Salem, T. A., & Salem, K. Y. (2022). Skeletal Dysplasia: Approach to Simplify

Diagnosis, Looking for Radiographic Clue Signs. Asian Journal of Medicine and Health, 20(12),


Ayaz, S. B., Rauf, S., & Rahman, F. (2019). Spondyloepiphyseal dysplasia congenita: report of

a case and review of the literature. Journal of Postgraduate Medical Institute, 33(1).

Chen, Z., Zhang, Z., Ye, F., Lei, F., & Feng, D. (2022). Multiple disc herniation in

spondyloepiphyseal dysplasia tarda: A rare case report and review of the literature. BMC

Musculoskeletal Disorders, 23(1), 1-8.


  • There are currently no refbacks.

© Copyright PJR 2008-