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Article

Restrictive dermopathy in a Turkish newborn.

Pediatric dermatology - 1 Jan 2000

Yesil Gözde, Hatipoglu Lhan, Esteves-Vieira Vera, Levy Nicolas, De Sandre-Giovannoli Annachiara, Tüysüz Beyhan

Abstract excerpt

A 4-day-old boy presented with tight, translucent skin, prominent vessels, skin erosions, and dysmorphic findings, including hypertelorism, antimongoloid axis, sparse eyelashes and eyebrows, pinched nose, natal teeth, microretrognathia, and an "o-shaped" mouth. Multiple joint contractures, dysplastic clavicles, and thin ribs were also observed. He died at 2 weeks of age of respiratory distress. The patient was...

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Source

Identifiers

PMID: 21121943
DOI: 10.1111/j.1525-1470.2010.01296.x

Genes

ZMPSTE24

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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