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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.
7 maj 2021 · SHORT syndrome is a rare condition described by RJ Gorlin et al in 1975 based on the striking physical features of two infants born to unaffected parents. Over time, additional individuals have been described and the clinical definition of SHORT syndrome has been expanded.
Diagnosis. The designation SHORT syndrome was coined by Gorlin et al [1975] to reflect several of the most striking clinical features of the original reported cases: short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay.
15 maj 2024 · Diagnosis and genetics. R 1.1 We recommend considering a diagnosis of Turner syndrome (TS) in individuals with female phenotype with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁).
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.
Abstract. Idiopathic short stature is a condition in which the height of the individual is more than 2 SD below the corresponding mean height for a given age, sex and population, in whom no identifiable disorder is present. It can be subcategorized into familial and non-familial ISS, and according to pubertal delay.
Summary. SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body.
