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

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. 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. 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

Eye anomalies in different genetic disorders: study of 20 cases

The eye has always provided a diagnostic window for hereditary and acquired systemic diseases. We aimed to thoroughly examine the ocular anomalies associated with genetic disorders in order to confirm the clinical diagnosis, also to record new findings that may not have been reported before in known disorders or might lead to discover a new syndrome. This study included twenty patients presented with different genetic disorders associated with eye anomalies. Patients were subjected to full history taking, family pedigree analysis, thorough clinical examination, anthropometric measurements and complete eye evaluation. IQ, cytogenetic, radiological, histopathological and other investigations were performed when indicated. The twenty patients were classified into 6 groups according to other system involvement, group I: were patients with skin diseases, group II: patients with mental retardation, group III: patient with brain anomalies, group IV: patients with dysmorphic syndromes, group V: patients with metabolic disorders, group VI: patients with isolated eye anomalies. We were able to accurately diagnose 18 cases with 13 disorders. Further investigations were needed for 2 syndromes. We observed new eye anomalies that were not previously reported in two sibs with a new syndrome of congenital cataract with lipoid proteinosis. Findings will be discussed

Juvenile hyaline fibromatosis [Murray-Puretic-Drescher Syndrome] oral, systemic and histopathological findings in an Egyptian girl

Juvenile hyaline fibromatosis [JHF] is an autosomal recessive condition that usually presents with nodular/ papular skin lesions and gingival hypertrophy during the first few years of life. There are several conditions in which gingival fibromatosis is seen as the oral finding and can be correlated with systemic or extraoral findings many of which have a genetic basis. This study describes clinical, genetic, orodental and histopathologic changes in a girl with features of the rare juvenile hyaline fibromatosis. Up to our knowledge this is the first recorded case in Egypt. We will discuss the major aspects of this syndrome and its differential diagnosis from other syndromes that may be associated with hereditary gingival fibromatosis