Genetic heterogeneity in spondylo-epimetaphyseal dysplasias: a clinical and radiological study

Abstract

Introduction: Spondylo-epi-metaphyseal dysplasias (SEMD) are a heterogeneous group of skeletal disorders characterized by defective growth and modeling of the spine and long bones. Different types are described in the literature. Accurate classification of SEMDs is essential for proper genetic counseling.
Patients and Methods: This study included 20 cases of SEMDs diagnosed by clinical and radiological findings. Cases were classified based on additional associated clinical and/or radiological features into 7 subtypes. Different subtypes were discussed with review of the literature.
Results: The study illustrated the heterogeneity of SEMDs and emphasized the importance of detailed and meticulous clinical genetic and biochemical evaluation in addition to comprehensive radiological investigations for such group of disorders. It also recommends further molecular studies to identify the molecular bases of the different types.

Keywords: Spondyloepimetaphyseal dysplasias, Genetic heterogeneity, Dyggve-
Melchior-Clausen dysplasia, Glycoaminoglycans.

Egypt. J. Hum. Genet Vol. 8 (2) 2007: pp. 147-172