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Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Most cases of pseudoachondroplasia are autosomal dominant. The face and skull are normal. Multiple affected sibs with normal parents may more often be the result of mosaicism than of recessive inheritance. For an isolated case with typical features and no consanguinity, the risk to offspring is close to 50%, while the risk to sibs is low (around 3%). Molecular defects are recognised in the collagen-associated protein COMP5. The condition is allelic with one form of multiple epiphyseal dysplasia (MED), and early hip arthritis is likely.
Endocrinology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
Mehul Dattani, Catherine Peters
Achondroplasia (Fig. 13.16) presents in the neonatal period with short limbs and characteristic craniofacial features. These include a large head with marked frontal bossing, a low nasal bridge and mild midfacial hypoplasia. Skeletal abnormalities include small cuboid vertebral bodies with short pedicles and progressive narrowing of lumbar interpedicular distance. Lumbar lordosis, mild thoracolumbar kyphosis, small iliac wings, short tubular bones and a short trident hand are other features of the condition (Figs 13.17–13.19). Mild hypotonia with some early motor delay is an occasional feature. Hydrocephalus secondary to a narrow foramen magnum is an associated feature. Spinal cord and/or root compression can occur as a consequence of kyphosis, spinal canal stenosis or disc lesions. Associated features include upper airways obstruction and recurrent otitis media. Pseudoachondroplasia resembles achondroplasia clinically.
Growth of the Cranial Base HHiH
Published in D. Dixon Andrew, A.N. Hoyte David, Ronning Olli, Fundamentals of Craniofacial Growth, 2017
Eteson and Stewart (1984) thought that some of the early descriptions of achondroplasia embraced other dysplasias, e.g., hypochondroplasia, pseudoachondroplasia, thanatophoric dysplasia, and some skeletal dysplasias. There is some — if far from perfect — correlation between the types of dysplasia and the craniofacial deformities. Those with defects of endochondral ossification lead to growth reduction in the cranial base (e.g., achondroplasia, thanatophoric dwarfism); whereas abnormalities of membranous ossification would tend to show in skull bones of membranous origin (e.g., cleidocranial dysplasia). Other skull changes may follow from long-term postural abnormalities in the skeletal dysplasias where there is severe vertebral malformation.
Embodied Practice: Reflections of a Physically Disabled Art Therapist in Social and Medical Disability Spaces
Published in Art Therapy, 2020
I have spent most of my life as the only individual on wheels in any given room. Diagnosed at an early age with pseudoachondroplasia, a rare form of dwarfism, I am a woman of short stature who uses a mobility scooter to get from place to place. My disability, like any other marginalized identity marker, affects how I navigate the world and how society receives me in return. In my career thus far, even prior to becoming an art therapist, my disability has presented itself in various ways—sometimes as the basis for discrimination and preconceptions of incompetence from other people, but also as an ability to connect deeply and authentically with others, particularly as a helping professional. Therefore, this article offers my personal experiences of disability to present a framework of art therapy rooted in disability studies and identity.