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词条 SHORT syndrome
释义

  1. Presentation

  2. Diagnosis

  3. Treatment

  4. References

  5. External links

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SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.

It was characterized in 1975.[1]

Presentation

SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, rieger anomaly and teething delay.

Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.

Diagnosis

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Treatment

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References

1. ^{{cite journal |vauthors=Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ |title=Malformation syndromes. A selected miscellany |journal=Birth Defects Orig. Artic. Ser. |volume=11 |issue=2 |pages=39–50 |year=1975 |pmid=819054 |doi= |url=}}

External links

{{Medical resources
| DiseasesDB = 30068
| ICD10 = Q87.1
| ICD9 =
| ICDO =
| OMIM = 269880
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeshID = C537327
| Orphanet = 3163
}}{{DEFAULTSORT:Short Syndrome}}{{congenital-malformation-stub}}

2 : Congenital disorders|Syndromes

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