A 10-year-old boy is seen for evaluation of short stature and tibial deformity. His past medical history is notable for term birth with the following birth parameters: birth weight was 2460 grams (30 ng/ml), elevated alkaline phosphatase level (491 U/L; normal 100-325 U/L), normal calcium and phosphorous levels, and elevated spot urine N-terminal telopeptides (NTx; 574 nM BCE/mM Cr; normal 152-505 nM BCE/mM Cr). Bone mineral density by Dual-energy X-ray absorptiometry (DXA) showed a total body Z-score of -3.4 indicating bone mineral density below normal range. Molecular genetic testing identified a pathogenic mutation in the IFITM5 gene, confirming a diagnosis of osteogenesis imperfecta, type V.…
This child has multiple fractures and if NAI was unlikely or ruled out, multiple fractures could be concerning for brittle bone disease, or osteogenesis imperfecta (OI). OI is caused by a mutation in type I collagen that leads to the formation of weak, brittle bone. The phenotypic expression is highly variable but in the most severe forms, patients experience multiple fractures and require frequent orthopedic procedures in their lifetimes. Since this stem includes clues of NAI (posterior rib fractures, bruises in various stages of healing, disheveled and seemingly neglected child), a genetic etiology is less…
4. What two organelles do you think are especially prominent in osteoblasts? (Hint: Consider the major substances that osteoblasts synthesize)…
Osgood Schlatter disease is a common of knee in growing adolescents. It is an inflammation of the area just below the knee where the tendon from the kneecap attaches to the shinbone. This disease most often occurs during growth spurts, when bone, muscles, tendons. And physical activity puts additional…
Duchenne muscular dystrophy or DMD for short is a mutation that happens in the genes. Duchenne is mostly found in boys and rarely found in girls. Duchenne can be inherited in an x-linked fashion. The symptoms usually appear before the age of 6. Sometimes symptoms can start as early as infancy. Not all symptoms happen at one the first symptom is a usual delay of motor milestones such as using muscles to sit up, walk and stand alone. Calf muscles enlarge, this is also known as false enlargement. The enlarged calf muscle…
Food and Drug Administration has approved a medicine for Morquio syndrome, called elosulfase alfa (Vimizim). It is given through a vein (IV, intravenously). Symptoms are treated as they occur. A spinal fusion may prevent permanent spinal cord injury in people whose neck bones are underdeveloped. Counseling is recommended for families who have a child with Morquio syndrome to help them understand the condition and possible treatments. Morquio syndrome is treated in many ways, because the condition can affect several body systems. The treatment a child needs depends on the severity of his symptoms. Some children might only require careful monitoring. Others may need nonsurgical or surgical treatments to address specific aspects of their…
Rickets are diagnosed through complete and medical and nutritional history with a complete physical exam.…
Rickets is the softening and weakening of bones in children also known as Osteomalacia in adults, usually because of a vitamin D deficiency or genetic condition. Vitamin D is what promotes the absorption of calcium and phosphorous from the Gestational Intestines tract. When a person has a vitamin D insufficiency it makes it difficult to maintain proper calcium and phosphorous levels in the bones. There are several different…
The skeletal system can suffer from a few diseases one of the most common ones is Osteoporosis another one is Osteogenesis imperfecta. Osteoporosis affects in a progressive way that deteriorates bone mass. Making the bones weaker lacking density and causing to have the deficiency on the bones protein intake this can bring about to the one who has it more vulnerable to skeletal fractures. Osteogenesis imperfecta disturbs the connective tissue or the ability of building it making the bones brittle in way more defenseless to wounds. Both this conditions are critical and need to be treated on the notion of knowing one suffers from them.…
Hypophosphatasia is one of many disorders that resemble oseogenisis imperfecta, also known as “Brittle Bone Disease”. A mutation in the gene that codes for tissue-nonspecific alkaline phosphatase, or ALP, is believed to be the cause. That is the central hostile regulator for bone mineralization. The patient who has Hypophosphatasia receives one defective gene from each parent. (Hypophosphatasia, eMedicine)…
Many diseases and disorders that affect the population have an early onset that begins when generations are young. Duchenne Muscular Dystrophy, DMD, is no different with a typical onset of symptoms between the ages three and five. DMD is characterized by muscle weakness that worsens rapidly. When a child, who has been diagnosed with DMD the condition can spread to the cardiovascular and respiratory muscles by the time they mature into teenagers. The beginning of the condition affects the shoulders, upper arm, hip and leg muscles.…
Now listen close because we are now going to give you tips and hints to avoid these bone diseases so as you grow in older in years, you don’t have to feel it beneath the surface. Exercise regularly, consume large amounts of calcium, vitamin D and also check with your local pharmacist about vitamins that help to keep your bones as strong as they were when you were a kid. Some things to avoid are excessive protein intake, smoking and drinking alcohol. Also try to avoid large consumption of caffeine. Keep all of this in mind every day and keep your bones as healthy as you can for as long as you can so you can continue on living a painless, carefree, energetic and fulfilling life. Remember that you’re not getting older; you’re mastering living at the fullest potential! Thanks for…
Developmental Orthopedic Disease occurs most commonly in young growing animals especially in giant breed dogs such as Mastiffs, Great Danes, Rottweiler’s and many other large to giant breed dogs. The key component of preventing this disease is proper nutrition. Some important nutritional factors of this disease to make sure and avoid are free choice feeding, excessive mineral intake at a young age, excessive calcium intake and an imbalance of vitamin D metabolites. Calcium and Phosphorus levels are a key component in avoiding D.O.D. If your puppy consumes excess amounts of phosphorus or calcium or if your dog is deficient that can also be a problem. Large breed puppies Calcium and Phosphorus ratios need to be on the lower end of the normal ratio for puppies, which is 1:1 to 2:1. Many pet owners do not realize the importance of feeding your dog the right food for their age and may…
Osteoporosis is a bone disease that can get worse with time. Your bones become fragile due to losing bone mineral density and bone mass. People do not realize this disease is occurring because they cannot feel their bones becoming weaker ("What is osteoporosis," 2011). Osteoporosis is most likely caused by three imbalances in the human body. Cause number one is a low magnesium/high calcium ratio. Cause number two is your female/male hormone is low. Cause number three is a low thyroid function ("The causes of osteoporosis,").…
Spencer, Samantha. "Osteogenesis Imperfecta - Testing & Diagnosis." Boston Children 's Hospital. N.p., n.d. Web. 12 Mar. 2013. <http://www.childrenshospital.org/az/Site139…