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

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

Serviço de Genética Clínica, Hospital de Pesquisa e Reabilitação de Lesões Lábio-Palatais, Universidade de São Paulo, Caixa Postal 620, 17043-900 Bauru, SP, Basil. Send correspondence to A.R.-C.

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.

Keywords: short syndrome; Brazilian girl; deafness; gastroesophageal reflux; post-natal; growth retardation.

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