SHORT syndrome in a two-year-old girl - case report.

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Term Occurence Count Dictionary
lipodystrophy 5 endocrinologydiseases
progeria 1 endocrinologydiseases
Insulin 2 endocrinologydiseasesdrugs
calcinosis 1 endocrinologydiseases
diabetes mellitus 2 endocrinologydiseases

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Select Drug Character Offset Drug Term Instance
Insulin 12230 speech development+Urinary systemNephrocalcinosis-Endocrine systemGlucose intolerance/ diabetes mellitus- Insulin resistance-While preforming molecular genetic testing, we have found a novel mutation in PIK3R1 -variant
Insulin 14834 SHORT syndrome, there are suggestions that in some cases it occurs in the second decade of life [[11]]. Insulin resistance has been diagnosed in patients with the following mutations c.1929_1933delTGGCA [[8]], 1945C>T
Select Disease Character Offset Disease Term Instance
calcinosis 12164 cognitive functionIntelligence within normal ranges+Delayed speech development+Urinary systemNephro calcinosis -Endocrine systemGlucose intolerance/ diabetes mellitus-Insulin resistance-While preforming molecular
diabetes mellitus 4618 typically affects the fifth digit).Carbohydrate metabolism disorder, namely insulin resistance and diabetes mellitus usually occur in the second decade of life [[11]]. Some patients suffer from congenital heart defects.
diabetes mellitus 12212 ranges+Delayed speech development+Urinary systemNephrocalcinosis-Endocrine systemGlucose intolerance/ diabetes mellitus -Insulin resistance-While preforming molecular genetic testing, we have found a novel mutation in PIK3R1
lipodystrophy 600 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.The
lipodystrophy 3191 dimple, low-set ears, wrinkles [[1]–[3], [5], [6], [8]].Another typical feature of the syndrome is lipodystrophy , namely lack of adipose tissue under the skin mainly on the face, arms and chest. Insufficiency of the
lipodystrophy 10772 height gains, some dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows (Figs. 1, 2, 3 and 4) led to suspicion of SHORT syndrome.Fig.
lipodystrophy 15192 described an 18 years old individual with c.1945C>T mutation free of insulin resistance problem.Partial lipodystrophy is considered as universal in SHORT syndrome [[24]]. It was observed in our patient (Figs. 3 and 4),
lipodystrophy 15502 c.1615_1617delATT [[11]], c.1465G>A [[11]], c.1943dupT [[11]], c.1892G>A [[11]] mutations. Usually lipodystrophy as well as insulin resistance have been considered as symptoms appearing together in such individuals.The
progeria 3549 look much older than their calendar age shows and the appearance of premature aging is referred to as progeria [[9]–[12]].The patients have underdeveloped anterior chamber of the eye which is called Rieger anomaly.

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