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Héron, D.; Mathieu‐Dramard, M.; Bitoun, P.; Odent, S.; Amiel, J.; Kuentz, P.; Thevenon, J.; Laville, M.; Reznik, Y.; Fagour, C.; Nunes, M.‐L.; Delesalle, D.; Manouvrier, S.; Lascols, O.; Huet, F.; Binquet, C.; Faivre, L.; Rivière, J.‐B.; Vigouroux, C.; Njølstad, P.R.; Innes, A.M.; Thauvin‐Robinet, C. (2016). "Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management".
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Lipodystrophy, or the absence of adipose tissue beneath the skin, is another common characteristic of the condition that primarily affects the face, arms, and chest. The thin, transparent skin shows more blood vessels when there is insufficient adipose tissue. Progeria is the term for the appearance
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Additional clinical features include intrauterine growth restriction, facial dysmorphism (deep-set eyes, prominent forehead, hypoplastic or thin alae nasi, small chin, large low-set ears, border, and downturned mouth), wrinkled and thin skin emphasizing a progeroid appearance, and mild midface
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Avila, M.; Dyment, D.A.; Sagen, J.V.; St‐Onge, J.; Moog, U.; Chung, B.H.Y.; Mo, S.; Mansour, S.; Albanese, A.; Garcia, S.; Martin, D.O.; Lopez, A.A.; Claudi, T.; König, R.; White, S.M.; Sawyer, S.L.; Bernstein, J.A.; Slattery, L.; Jobling, R.K.; Yoon, G.; Curry, C.J.; Merrer, M.L.; Luyer, B.L.;
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is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975.
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The acronym SHORT, which stands for characteristic traits seen in the majority of patients, is incorporated into the name of the condition. These features include the following:
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Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ (1975). "Malformation syndromes. A selected miscellany".
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of premature aging in persons with the illness, who appear much older than their actual age.
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Klatka, Maria; Rysz, Izabela; Kozyra, Katarzyna; Polak, Agnieszka; Kołłątaj, Witold (2017).
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Diagnosis is based on facial characteristics and molecular
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Hyperextensibility of the joints and/or inguinal hernias.
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SHORT syndrome is inherited in a autosomal dominant manner
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