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Babies born with achondroplasia are more likely to develop a small curve in the lower part of the back. This is called a gibbus. The gibbus will become more noticeable as your child starts sitting up, but it usually improves once your child learns to pull to stand and walk. Babies with...
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What does occupational therapy mean? An ‘occupation’ is anything we do. It could be going to school, drawing a picture, or eating a meal. We are here to help children be as independent as they can be whilst doing whatever matters to them. Our occupational therapists in the metabolic...
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Top tips for sleep in children with osteogenesis imperfecta Muscular aches and pains are common in osteogenesis imperfecta (OI) especially if you have had an active day. These can be worse at night as this is a time to switch off and relax, distractions are less, which can make aches and pains more...
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How can teeth be affected? Osteogenesis imperfecta Sometimes teeth can be brittle and chip easily (dentinogenesis imperfecta or ‘DI’). Teeth with DI are more prone to have decay and tooth wear. Very often children may need dental treatment. As bones are softer there is a higher risk of...
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What is achondroplasia? Achondroplasia is one of the most common forms of skeletal dysplasia. It is often referred to as a condition causing restriction in growth or short stature. Features include shortened limbs, slowed growth, short stature and changes in the shape and size of parts of the skull....
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What is achondroplasia? Achondroplasia is one of the most common forms of skeletal dysplasia. It is often referred to as a condition causing restriction in growth or short stature. Features include shortened limbs, slowed growth, short stature and changes in the shape and size of parts of the skull....
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What is achondroplasia? Achondroplasia is one of the most common forms of skeletal dysplasia. It is often referred to as a condition causing restriction in growth or short stature. Features include shortened limbs, slowed growth, short stature and changes in the shape and size of parts of the skull....
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This resource has been developed by Metabolic Bone Disease service to include children with osteogenesis imperfecta (OI) in mainstream P.E. lessons at school. In general Please seek specific advice from the pupils physiotherapist for their inclusion in P.E. lessons. Specific advice and guidelines...
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Why has my child been referred to the metabolic bone disease team? When a child is diagnosed with a skeletal dysplasia, they will be referred to a team of specialists within a hospital who will help you to understand more about your child’s condition. Our team includes: a consultant specialising...
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What is achondroplasia? Achondroplasia is one of the most common forms of skeletal dysplasia. It is often referred to as a condition causing restriction in growth or short stature. It affects 1 in 15,000 to 1 in 40,000 babies. Achondroplasia is a condition caused by a change in a gene called FGFR3....
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It has been suggested to you that your child may benefit from treatment with oral bisphosphonates. This information leaflet is intended to answer some of the questions that you may have. Why does my child need treatment? When we saw your child in clinic their medical and fracture history was...
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Introduction Babies diagnosed with osteogenesis imperfecta (OI) may have fractures which appear to have little or no apparent cause. It is important to realise that with the best care in the world, babies with brittle bones may still have fractures. Babies with brittle bones enjoy the same things as...
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Specialists in osteogenesis imperfecta The Paediatric Bone Disease Team, led by Dr Paul Arundel provide a focused multidisciplinary service for children with osteogenesis imperfecta (OI), also known as brittle bone disease. Sheffield Children’s NHS Foundation Trust is a national and international...
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What is transition? Transition is a process of moving from one place or stage of life to another; moving from primary to secondary school is a transition your child will have already made. As your son or daughter is approaching their teenage years we will be encouraging them to be more aware of...
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Introducing the idea of transition As you are getting older it is important to start talking to you about your transition from seeing the Metabolic Bone Team at Sheffield Children’s Hospital to being seen at an adult hospital. What is transition? Transition is the move from one place or phase...
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You have been invited to attend an intensive therapy week with the metabolic bone disease team. This resource will give you an idea of what to expect from us throughout the week and what will be expected of you and your parents and carers. What is an intensive therapy week? During an intensive...
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Your child has been invited to attend an intensive therapy week with the metabolic bone disease team. This resource will explain what is involved within the intensive therapy week. It will give you an idea of what to expect throughout the week and what will be expected of you and your child. What...
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Starting primary school The transition into primary school needs to be planned and well managed. The school should arrange a meeting with the child’s parents and carers and any other professionals before the child starts school. This gives everybody the opportunity to get to know each other,...
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Starting secondary school The transition from primary into secondary school needs to be planned and well managed. It is advisable to arrange a meeting, well in advance of the pupil changing school so that the key people involved in the pupil’s education can meet their and parents and carers, and...
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This resource is written as an advice for teachers and gym instructors working with young people who have expressed an interest in attending a gym and have been diagnosed with a condition which affects the strength of their bones, such as osteogenesis imperfecta (brittle bone disease), osteoporosis...
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Before your operation Keep yourself as active and as strong as you can. Carry on doing your normal sports, walking and activities, unless you have been told not to by your doctor or physiotherapist. Talk with your parents and carers to see what every day activities you will need help with at home...
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