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Article

Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.

American journal of medical genetics. Part A - 1 Dec 2008

Bar-Yosef Omer, Polak-Charcon Sylvie, Hoffman Chen, Feldman Zeev P, Frydman Moshe, Kuint Jacob

Abstract excerpt

We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a "hieroglyphic appearance." The analysis of the...

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Source

Identifiers

PMID: 18973246
DOI: 10.1002/ajmg.a.32541

Genes

ADAMTS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18973246-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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