Genetic Skeletal Dysplasias : A Guide Diagnosis And Management

999 Words Nov 4th, 2016 4 Pages
Genetic Skeletal Dysplasias: A Guide to Diagnosis and Management “Skeletal Dysplasias are a large, heterogeneous group of genetic disorders characterized by abnormal growth, development, and maintenance of skeletal cartilage and bone” (Sewell et al, 2015, p. 575). The severity of skeletal dysplasias has a great range from premature arthritis in individuals with average height to death a few weeks before births or right after birth. Individuals with skeletal dysplasia often have extreme short stature. These abnormalities usually come from dominant mutations, but can also arise from recessive mutations, x-linked mutations, and chromosomal abnormalities. With birth rates being 1 in 5000 born with skeletal dysplasias it is not a common abnormality and represents 5 percent of children born with birth defects (Sewell et al 2015). Individuals who are born with skeletal dyslasias not only suffer from abnormal growth and development of bone and cartilage, but may develop difficulties related to hearing, vision, neurological, respiratory, cardiac, and renal function. The classification of genetic skeletal dysplasias has continually evolved over the years. Before the 1970’s individuals with dwarfism were placed in one of three categories: pituitary dwarfism (proportionate dwarfism), achondroplasia (short limbed dwarfism), or Morquio’s (short-trucked dwarfism). When sciences and radiographic imaging became more advanced there became an increasing awareness of the differences in genes…

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