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Article

Pulmonary agenesis: expansion of the VCFS phenotype.

American journal of medical genetics - 15 Nov 2002

Conway Karen, Gibson Ronald, Perkins Jonathan, Cunningham Michael L

Abstract excerpt

In this report, we describe a child with the typical craniofacial manifestations of velocardiofacial syndrome (VCFS), a 22q11.2 deletion, and unilateral pulmonary agenesis. The 22q11.2 deletion syndromes are associated with malformations presumed to be caused by a disruption of cephalic neural crest cell migration during the fourth week of embryonic development. We suggest that the pulmonary agenesis seen in this...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 22
Share to Craniofacial Abnormalities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Infant, Newborn

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Source

Identifiers

PMID: 12400071
DOI: 10.1002/ajmg.10673

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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