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The Endocrine System and Its Disorders
Published in Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss, Understanding Medical Terms, 2020
Walter F. Stanaszek, Mary J. Stanaszek, Robert J. Holt, Steven Strauss
Pituitary hypersecretion of the growth hormone somatotropin during the period of skeletal development results in giantism, an abnormal increase in the length of skeletal structures causing unusually large body size (hence the name). Acromegaly (acro = extremity, plus megaly, large), a form of gigantism that affects adults, is often caused by a pituitary tumor that produces excess growth hormone after skeletal development is normally complete. Rather than affecting skeletal length, its effects are seen as thickening of cartilage and bone with widening of the jaw, hands, feet, eyebrow ridges, and soft tissue. Conversely, hyposecretion of somatotropin results in dwarfism, the condition seen in dwarfs and midgets. Dwarfism can also result from a deficiency in thyroid hormones.
Developmental and Acquired Disorders of The Spine
Published in Milosh Perovitch, Radiological Evaluation of the Spinal Cord, 2019
Twenty-nine dwarfed patients with congenital dysplasia of the odontoid process, ranging between 3 and 36 years of age, represented the initial group of patients evaluated clinically and radiologically.7 Eight different types of skeletal dysplasia were the cause of dwarfism. Ten patients had mucopolysaccharidosis IV (MPS IV) (Morquio's syndrome), three had Morquio's syndrome type II (nonkeratan sulfate-excreting Morquio's syndrome), four suffered from pseudoanchondroplastic dysplasia, three were marked for Scott's syndrome, one had spondylometaphyseal dysplasia, another three showed metaphyseal chondrodysplasia type McKusick, two were found to have spondyloepiphyseal dysplasia congenita, and the remaining three were dwarfs of an unclassified type. Out of 29 patients (75%) who had atlanto-axial instability, 15 (51%) had clinical signs of myelopathy. The earliest and most prominent sign of myelopathy, present even before the appearance of pyrimidal tract signs, was the progressive decrease in physical endurance. Pyrimidal tract signs of variable intensity appeared rather late and were present in 12 of these 15 patients. Posterior column signs and sphincter disturbances were present in two patients (Figure 1).
Patterns of Inheritance: Mendelian and Non-Mendelian
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Merlin G. Butler, Michael Begleiter, Shannon Lillis, Molly Lund, F. John Meaney
For example, in achondroplasia, which is the most common form of dwarfism, most individuals are heterozygous. A homozygous affected child of two parents with achondroplasia is severely affected and often does not survive early infancy. The Punnett square in Fig. 3 shows the possibilities of a mating between two affected individuals in an autosomal dominant condition such as achondroplasia. As mentioned earlier, there is a 25% chance of having a homozygous affected child. There is also a 25% chance of having an unaffected child with homozygosity for the normal gene allele and a 50% chance of having a heterozygous child who will be affected like his or her parents.
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene
Published in Ophthalmic Genetics, 2023
Bilge Batu Oto, Deniz Ağırbaşlı, Oğuzhan Kılıçarslan, Gökhan Celik, Aysel Kalayci Yigin, Mehmet Seven, Hüseyin Yetik
SOFT syndrome (MIM614813) is an extremely rare genetic primary bone dysplasia disorder caused by biallelic mutations in the POC1 Centriolar Protein A (POC1A) gene. Syndrome is a severe form of dwarfism together with four major clinical manifestations as short stature, onychodysplasia, facial dysmorphism, and hypotrichosis. Arrested growth of bone and ectodermal tissues causes characteristic phenotypic features as disproportionate short stature, relative macrocephaly or normocephaly at birth, prominent forehead, midfacial dysmorphism, hypoplastic, and short fingers. Psychomotor development does not seem to be affected. Orbital manifestations like hypertelorism may be present due to affected midface anatomy (1,2). Rare retinal manifestations of SOFT syndrome have been reported to date. Herein, we report a unique case of a SOFT syndrome with novel findings of pigmentary retinopathy.
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).
Manufacture of custom‐made spectacles using three‐dimensional printing technology
Published in Clinical and Experimental Optometry, 2020
Emre Altinkurt, Nihan Aksu Ceylan, Umut Altunoglu, Gozde Tutku Turgut
A clinical diagnosis of MCPH/SCKS spectrum was made based on findings of distinctive facies, severe growth retardation and microcephaly, developmental delay and cranial magnetic resonance imaging findings. Molecular testing could not be performed. Callosal anomalies and cortical malformations such as pachygyria can be observed in a minority of MCPH/SCKS patients.2013 Cataracts are also infrequently reported in some forms of MCPH.2012 Microcephalic osteodysplastic primordial dwarfism type II was ruled out on clinical grounds due to the lack of typical skeletal features of the patient.