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Article

Cerebrofaciothoracic syndrome.

American journal of medical genetics - 11 Jan 1996

Guion-Almeida M L, Richieri-Costa A, Saavedra D, Cohen M M

Abstract excerpt

We report on a patient with a large septum pellucidum, hypodensity of gray matter, hypertelorism, and costovertebral anomalies. Only 5 previous cases have been described with this distinctive phenotype. Autosomal recessive inheritance seems likely.

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Source

Identifiers

PMID: 8669442
DOI: 10.1002/(SICI)1096-8628(19960111)61:2<152::AID-AJMG9>3.0.CO;2-Z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-8669442-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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