Primordial dwarfism: overview of clinical and genetic aspects

摘要: Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver-Russell Microcephalic Osteodysplastic Dwarfism types I/III, II and Meier-Gorlin Syndrome. This disorder characterized by intra-uterine growth retardation post-natal abnormalities occur as result disorganized molecular genomic changes in embryonic stage and, thus, it represents unique area to study developmental abnormalities. Lot research has been carried out on different aspects; however, consolidated review that discusses an overall spectrum this not accessible. Recent points toward important cellular mechanisms human body regulate the complexity process. Studies have emerged clearly associated with number abnormal chromosomal, epigenetic alterations can predispose embryo develop PD-associated defects. Finding associating such fundamental its subtypes will help re-examination alleged functions at both levels thus reveal intrinsic mechanism leads balanced growth. Although findings unraveled subtle understanding process, we further require active terms identification reliable biomarkers for immediate requirement clinical utilization. It hoped advance basic regulating relevant health. Therefore, written aim present overview modifications reported be heterogenous disorder. Further, latest respect genetics summarized aid medical fraternity their utility, diagnosing where there are overlapping physical attributes simultaneously inform about developments PD biology.