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Article

Brachytelephalangic chondrodysplasia punctata with severe spinal cord compression: report of four new cases.

European journal of pediatrics - 1 Apr 2007

Garnier Arnaud, Dauger Stéphane, Eurin Danièle, Parisi Ida, Parenti Giancarlo, Garel Catherine, Delbecque Katy, Baumann Clarisse

Abstract excerpt

Brachytelephalangic chondrodysplasia punctata (CDPX1, OMIM: #302950) is a rare congenital skeletal dysplasia caused by arylsulfatase E deficiency (OMIM: #300180). Although the symptoms are usually mild, severe spinal cord compression by dysplastic vertebras may develop. We report four new cases w...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16937129
DOI: 10.1007/s00431-006-0239-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16937129-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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