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Article

Cerebro-facio-thoracic dysplasia: expanding the phenotype.

Clinical dysmorphology - 1 Apr 2007

Cilliers Deirdre, Alanay Yasemin, Boduroglu Koray, Utine Eda, Tunçbilek Ergül, Clayton-Smith Jill

Abstract excerpt

We report a further two patients with cerebro-facio-thoracic dysplasia, a rare autosomal recessive condition with thoracic costovertebral dysplasia, developmental delay and characteristic facial features. One of our patients has the additional features of large, bilateral colobomas of the optic nerve, ptosis, small conical teeth and severe left-sided talipes. He also has hypermobile joints, especially in his...

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Identifiers

PMID: 17351359
DOI: 10.1097/MCD.0b013e328012e292

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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