China
Africa
Explore chapters and articles related to this topic
Lumbar Stenosis with Achondroplasia
Published in Kelechi Eseonu, Nicolas Beresford-Cleary, Spine Surgery Vivas for the FRCS (Tr & Orth), 2022
Kelechi Eseonu, Nicolas Beresford-Cleary
Achondroplasia is the most common form of human skeletal dysplasia, with an estimated frequency of between 1 in 15,000 and 1 in 40,000 live births. Patients with achondroplasia possess a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene on the short arm of chromosome 4, which affects the maturation of chondrocytes in the growth plate.
Advances in Non-Invasive Diagnosis of Single-Gene Disorders and Fetal Exome Sequencing
Published in Carlos Simón, Carmen Rubio, Handbook of Genetic Diagnostic Technologies in Reproductive Medicine, 2022
Liesbeth Vossaert, Roni Zemet, Ignatia B. Van den Veyver
A few studies have examined the advantage of ES for prenatally diagnosed anomalies in specific organ systems, emphasizing the importance of case selection. In a study focusing on fetuses with congenital anomalies of the kidneys and urinary tract (CAKUT), pathogenic variants were detected in 4/30 (14%) cases after a negative CMA analysis.90 For skeletal dysplasias, Chandler et al. reported an 81% (13/16) diagnostic rate for whole-exome sequencing (WES,91 and, for nonimmune hydrops fetalis, Sparks et al. reported a 29% (37/127) diagnostic rate. ES has also been a useful testing tool in 6.1% of cases of intrauterine fetal death (15/246).84,92
Evaluation of Pediatric Limb Deformities
Published in Nirmal Raj Gopinathan, Clinical Orthopedic Examination of a Child, 2021
General examination should focus on determining whether the deformity is part of a generalized skeletal disorder. As is the case with history-taking, the examination should be individualized, but the following points should be ascertained: Are there any features of skeletal dysplasias? Short stature, abnormal facies, disproportionate segmental measurements, etc. may be important pointers.Are there any features suggestive of metabolic disorders, for example, rickets? Chest wall abnormalities, hypotonia, problems with dentition, etc. may be noted.
Enzyme replacement combinational therapy: effective treatments for mucopolysaccharidoses
Published in Expert Opinion on Biological Therapy, 2021
Azam Safary, Hakimeh Moghaddas-Sani, Mostafa Akbarzadeh-Khiavi, Alireza Khabbazzi, Mohammad A. Rafi, Yadollah Omidi
The skeletal abnormalities are the early and prominent features of the MPS. The main clinical features of skeletal dysplasia include short stature (particularly pronounced in MPS IV and MPS VI), long bone deformation, macrocephaly, hip dysplasia, chest deformity, facial dysmorphism, and osteopenia (particularly in MPS VI and MPS VII) [32,34]. The skeletal and joint abnormalities also occur in severe forms of MPS I and MPS II [35]. Spinal involvement, as a common feature, has also been described in patients with the MPS I, MPS II, MPS III, MPS IVA, MPS VI, and MPS VII [36]. Such biological impacts can lead to a decrease in the range of motion of the ankle and knee joints in these patients. The current administrated ERT for the MPS IV with main bone manifestations is not effective enough in targeting the bones. Thus, a modified enzyme delivery system with a high affinity to the bone might provide much better clinical results. It has been shown that nanocarriers conjugated to bisphosphonates with a strong affinity to one of the bone components (hydroxyapatite) might be a beneficial method for increasing the release of the enzymes to the bone via the resorption process. Besides, intra-articular administration of the enzymes for the bone delivery has been examined in the MPS disorders as the new treatment strategies [37,38].
Fetal hydrops – a review and a clinical approach to identifying the cause
Published in Expert Opinion on Orphan Drugs, 2020
Esther Dempsey, Tessa Homfray, John M Simpson, Steve Jeffery, Sahar Mansour, Pia Ostergaard
There are more than 450 skeletal dysplasias described in the literature [150]. Many of these can be diagnosed antenatally by ultrasound identification of short long bones, abnormal bone morphology, abnormal bony opacity (aberrant mineralization) or additional or missing bones for that gestational age. The specific diagnosis can be particularly challenging prenatally and effort is made to differentiate those skeletal dysplasias which are lethal from those which are not. This is information that is particularly useful to parents when making decisions about managing a pregnancy. Consideration must also be given to delivery as many skeletal dysplasia are complicated by fractures and the incidence of traumatic birth can be reduced with the decision to undertake a planned cesarean section.
An Exploration of Sexual Health Education Among Individuals with Skeletal Dysplasia (Dwarfism)
Published in American Journal of Sexuality Education, 2018
Individuals with dwarfism have a disability and are a minority group, but they are not always viewed as such, possibly because they are seen to be living productive lives (Shakespeare, Thompson, & Wright, 2010). Many individuals with dwarfism do not identify as having a disability (Shakespeare et al., 2010). Approximately 200 forms of dwarfism exist, which affects about 1 in 15,000 individuals (Bonafe et al., 2015; Sewell et al., 2015; Thompson, Shakespeare, & Wright, 2008). Dwarfism refers to skeletal dysplasia, a class of medical conditions that involves skeletal abnormalities of bone and cartilage. Disproportionate skeletal dysplasia is when limbs are not sized to a person's trunk, and proportionate skeletal dysplasia is when the person has limbs that match the trunk, but is short in stature (Bonafe et al., 2015; Sewell et al., 2015). Achondroplasia is the most common and best studied form of skeletal dysplasia, affecting 1 in 26,000 births (Bonafe et al., 2015; Sewell et al., 2015). Each type of skeletal dysplasia is associated with a set of physical or functional difficulties, which can include spinal cord problems, obesity, chronic pain, premature arthritis, and osteoporosis (Dhiman et al., 2017; Low, Knudsen, & Sherrill, 1996; Sewell et al., 2015). Many individuals with skeletal dysplasia do not seek services for their physical pain, possibly due to feeling stigmatized by health care providers (Dhiman et al., 2017).