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Disease definition. A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay.
27 gru 2013 · This chapter examines the everyday experiences of short women, focusing on the problems they face and the coping strategies used to navigate being short in a heightist society. Further, this chapter views height as a stigmatized identity, which both negatively and positively impacts short women.
Down syndrome (United States) or Down's syndrome (United Kingdom and other English-speaking nations), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3]
For their part, however, women have been documented to face stigma for being tall (Salska et al., 2008) as well as for being short (Kruse, 2003; Rott, 2013) and consequently face body image...
4 maj 2017 · We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent with the phenotype described for this syndrome.
2 gru 2022 · SHORT syndrome results from dysfunction of PI3K, but the mechanisms behind the clinical manifestations are not entirely understood. Elucidating these mechanisms may contribute to the understanding of the roles of insulin signaling and PI3K signaling in humans.
8 mar 2018 · Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of Down syndrome.
