Pulmonary agenesis: expansion of the VCFS phenotype.
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 case is related to a disruption of the dorsal aortic arch development that selectively interfered with lung bud growth. We suggest that pulmonary agenesis should be considered part of the spectrum of malformations seen in 22q11.2 deletion.
Conway
Karen
K
University of Massachusetts School of Medicine, Worcester, Massachusetts, USA.
Gibson
Ronald
R
Perkins
Jonathan
J
Cunningham
Michael L
ML
D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D010641:Phenotype; D013577:Syndrome; D014057:Tomography, X-Ray Computed