Spondyloepiphyseal dysplasia tarda : a report of two cases with x-linked inheritance

Abstract EN

Objectives: The aim of the study is to present two cases of a rare disease, spondyloepiphyseal dysplasia, with presentation of the clinical and radiological findings, and to review its management and prognosis.

Methods: A family consisting of l9 siblings, one husband and three wives, the parents, and other family members were studied in Tafila, which is located in the southern part of Jordan.

Clinical examinations were performed in addition to relevant radiological and laboratory investigations.

Resulls: Two brothers were affected with this disease; both of them were offspring of the third marriage.

Both presented with short stature and abnormal gait, the elder being more severely affected.

Conclusion: Spondyloepiphyeseal dysplasia is a rare disease with variable presentation according to the mode of inheritance.

Genetic counseling for the involved families is essential.