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Article

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

Italian journal of pediatrics - 4 May 2017

Klatka Maria, Rysz Izabela, Kozyra Katarzyna, Polak Agnieszka, Kołłątaj Witold

Abstract excerpt

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 with the phenotype...

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Identifiers

PMID: 28472977
DOI: 10.1186/s13052-017-0362-z
PMCID: PMC5418728

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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