Short syndrome: report on a Brazilian girl with a deafness, gastroesophageal reflux and post-natal growth retardation

Vitti, Simone V; Ghedini, Simone G; Richieri-Costa, A

Vitti, Simone V; Ghedini, Simone G; Richieri-Costa, A.

Rev. bras. genét ; 17(3): 345-7, set. 1994. ilus, tab

Article in English | LILACS | ID: lil-165263

ABSTRACT

ABSTRACT

We report on a Brazilian girl with the clinical signs of SHORT syndrome. She also presented gastroesophageal reflux and evident post-natal growth retardation. The normal neuropsychological development and severe sensorineural deafness found are clearly signs of the SHORT syndrome. Clinical and genetic aspects are discussed.

Subject(s)

Humans; Female; Child, Preschool; Abnormalities, Multiple; Deafness/complications; Growth Disorders/complications; Gastroesophageal Reflux/complications; Syndrome

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Index: LILACS (Americas) Main subject: Abnormalities, Multiple / Gastroesophageal Reflux / Deafness / Growth Disorders Limits: Child, preschool / Female / Humans Country/Region as subject: South America / Brazil Language: English Journal: Rev. bras. genét Journal subject: Genetics / Histology Year: 1994 Type: Article

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