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Achondroplasia
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
Achondroplasia is an autosomal dominant condition and is characterized by a defective cartilaginous growth plate. Affected individuals nevertheless have normal mental and sexual functions and there is no shortening of the lifespan, They are normal sexually too.
Telephone Receiver Femur
Published in Michael E. Mulligan, Classic Radiologic Signs, 2020
Thantophoric dwarfism (thanatophoric dysplasia) was described in 1967 by Pierre Maroteaux and colleagues1 (Hopital des Enfants-Malades, Paris). They reported their findings in four cases and discussed the differential diagnostic features especially with regard to achondroplasia. One of the features they emphasized in this new disorder was the extreme shortening of the long bones. They also described the abnormal curvature of the diaphysis and the cupping, or flaring, and irregularity of the metaphysis (Figure 1). Four years later these abnormal features of the femurs were characterized as resembling a telephone receiver (Figure 2) by Joseph A. Bailey II (Johns Hopkins University) in his 1971 review article entided, Forms of Dwarfism Recognizable at Birth. Bailey said, ‘Affected individuals can be diagnosed even in utero on the basis of their characteristic bony deformities. Femurs shaped like ‘telephone receivers’ are an obvious feature.’2 Simply put by Bailey, ‘that’s the way it appeared to me’ (personal communication).
Disorders of bone and connective tissue
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
There are a number of important management issues in achondroplasia, both in childhood and adult life, especially those relating to anaesthesia, spinal instability and spinal stenosis, that need to be understood by families and by professionals.
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).
Achondroplasia and severe sensorineural hearing loss: The role of active bone conduction implants
Published in Cochlear Implants International, 2022
Lauren Siegel, Rakhna Araslanova, Camilla Stepniak, Kim Zimmerman, Sumit K. Agrawal
Achondroplasia is the most common skeletal dysplasia and is caused by a genetic mutation in fibroblast growth factors receptor 3 (FGFR3) (He et al., 2011). In addition to a short stature, several neurotologic manifestations are observed in this condition, with 50–70% of individuals experiencing middle ear dysfunction (Pauli, 2019). An estimated 40% of patients with achondroplasia develop conductive hearing loss (Hunter et al., 1998), and a large number of patients have co-existing sensorineural hearing loss leading to developmental delays in language and expression as well as an overall diminished quality of life (Pauli, 2019; Shohat et al., 1993; McClay et al., 2002; Horton et al., 2007)
Quality of life, physical functioning, and psychosocial function among patients with achondroplasia: a targeted literature review
Published in Disability and Rehabilitation, 2022
Constantinos Constantinides, Sarah H. Landis, James Jarrett, Jennifer Quinn, Penelope J. Ireland
Achondroplasia (ACH) is the most common type of skeletal dysplasia with a prevalence of approximately 1 in 25 000 live births worldwide [1–4]. It is an autosomal dominant disorder with the majority of cases (>95%) related to a mutation (gly380Arg) in the gene encoding for fibroblast growth receptor 3 (FGFR3) [1,5]. The most obvious clinical feature of achondroplasia (ACH) is severe short stature (approximately −6 height standard deviation score [SDS] versus average stature per World Health Organization [WHO] adult height reference) with disproportionate bone growth manifesting as a long narrow trunk and rhizomelic shortening of the proximal part of the arms and legs [6–8]. In addition to the core clinical feature of disproportionate short stature, the impaired endochondral skeletal growth in ACH manifests in multiple bone growth related morbidities such as leg bowing (or genu varum), foramen magnum stenosis and cervicomedullary compression, spinal curvature and stenosis, hydrocephalus, obstructive sleep apnea and recurrent otitis media [1,6,9,10]. The resultant short stature, shortened limbs, and medical complications substantially impact both physical and psychosocial aspects of daily life, and consequently patient quality of life (QoL), starting from a very early age [8,10]. Specific physical manifestations include functional limitations or decreased level of independence in carrying out activities of daily living (ADLs), such as grooming, bathing, grocery shopping, preparing meals, and climbing stairs [11], while psychosocial function can be negatively impacted by depression, anxiety, low self-esteem, problems with peer relationships (e.g. bullying) and other behavioral and emotional problems.