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

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

BACKGROUND SHORT syndrome is a rare genetic congenital defects condition. The frequency of the disease still remains unknown. CASE PRESENTATION We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular depression, lipodystrophy at the lumbar region and around elbows), consistent w...

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ژورنال

عنوان ژورنال: Italian Journal of Pediatrics

سال: 2017

ISSN: 1824-7288

DOI: 10.1186/s13052-017-0362-z