Kousseff described siblings in a family with a group of malformations. Subsequently the phenotype was associated with microdeletions in 22q11-13, placing it within the spectrum of the Velo-Cardio-Facial (VCF) syndromes.
Genetic defect: microdeletion at 22q11.2
Inheritance: autosomal recessive
Clinical findings:
(1) neural tube defect (sacral meningocele or myelomeningocele, spina bifida)
(2) conotruncal heart defects (transposition of the great vessels, truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, pulmonary atresia with ventricular septal defect)
(3) anomalies affecting the head and neck (cleft palate, facial dysmorphic features)
(4) other variable malformations
Testing for microdeletions in 22q11 should be considered when faced with a fetus or neonate with a neural tube defect and congenital heart disease.
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