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
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Most skeletal dysplasias do not show up until later in child hood. For example babies born with pseudoachondroplasia, a form or short-limb dwarfism, have average birth lengths and do not start to show abnormalities until around age three. Some symptoms that can help diagnosis skeletal dysplasia is children is congenital heart malformation, multiple joint dislocations, polydactyl, and susceptibility to infection. Although most dysplasias are not detectable at birth, around 100 dysplasias are recognizable at birth, including achondroplasia. Achondroplasia is a form of short-limbed dwarfism which is caused by “failure of endochondral ossification due to a fibroblast growth factor receptor 3 mutation” (Vajo, Francomano, Wilkin, 2000). Some of these dyplasias can potentially be detected on an ultrasound as early as 20 weeks. The measurements the doctors look for on the ultrasound is the length of the humerus or femur. If the length of either of these limbs is less than the fifth percentile it is highly recommended to seek out a specialist. The main concern for fetuses diagnosed with skeletal dysplsia is a small chest circumference which can cause death due to pulmonary insufficiency. Another way of diagnosing prenatally is by molecular analysis of DNA from certain cells. This is way more complex and requires and geneticist to be sought out. …show more content…
A complete genetic skeletal survey is normally preformed. This includes an AP and lateral skull. AP and lateral whole spine, AP pelvis, AP and lateral of one arm and one leg, and AP views of the hands and feet (Lachman, Alanay, 2011). The best time to visualize abnormalities in the radiographs is when children are still young and their growth plates are still open. The first step is locating where the shortening is occurring in the spine or legs. The second step in identifying if there is epiphyseal, metaphyseal, or diaphyseal ossification. It should also be noted in the radiographic report is there are joint dislocations, bone age maturation, or abnormal mineralization. Most cases of skeletal dysplasia are diagnosed on radiographic and clinical observation alone, but patient history should always play a role in diagnosis if
Most skeletal dysplasias do not show up until later in child hood. For example babies born with pseudoachondroplasia, a form or short-limb dwarfism, have average birth lengths and do not start to show abnormalities until around age three. Some symptoms that can help diagnosis skeletal dysplasia is children is congenital heart malformation, multiple joint dislocations, polydactyl, and susceptibility to infection. Although most dysplasias are not detectable at birth, around 100 dysplasias are recognizable at birth, including achondroplasia. Achondroplasia is a form of short-limbed dwarfism which is caused by “failure of endochondral ossification due to a fibroblast growth factor receptor 3 mutation” (Vajo, Francomano, Wilkin, 2000). Some of these dyplasias can potentially be detected on an ultrasound as early as 20 weeks. The measurements the doctors look for on the ultrasound is the length of the humerus or femur. If the length of either of these limbs is less than the fifth percentile it is highly recommended to seek out a specialist. The main concern for fetuses diagnosed with skeletal dysplsia is a small chest circumference which can cause death due to pulmonary insufficiency. Another way of diagnosing prenatally is by molecular analysis of DNA from certain cells. This is way more complex and requires and geneticist to be sought out. …show more content…
A complete genetic skeletal survey is normally preformed. This includes an AP and lateral skull. AP and lateral whole spine, AP pelvis, AP and lateral of one arm and one leg, and AP views of the hands and feet (Lachman, Alanay, 2011). The best time to visualize abnormalities in the radiographs is when children are still young and their growth plates are still open. The first step is locating where the shortening is occurring in the spine or legs. The second step in identifying if there is epiphyseal, metaphyseal, or diaphyseal ossification. It should also be noted in the radiographic report is there are joint dislocations, bone age maturation, or abnormal mineralization. Most cases of skeletal dysplasia are diagnosed on radiographic and clinical observation alone, but patient history should always play a role in diagnosis if