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Neonatal Williams Syndrome Presenting as an Isolated Supravalvular Pulmonary Stenosis
- Source :
- Scopus-Elsevier
- Publication Year :
- 2003
- Publisher :
- Archives of Pathology and Laboratory Medicine, 2003.
-
Abstract
- An infant with normal facies and none of the extracardiac anomalies usually associated with Williams syndrome presented at birth with an echocardiographic pattern of supravalvular pulmonary stenosis and displastic pulmonary valve. A clinical reappraisal was planned at 3 months of age, but the girl died suddenly at home at 2 months of age. At autopsy, both ventricles were hypertrophic, and the valves showed mild dysplasia. The walls of the great arteries were thick, with a “washed leather” consistency, but there was no gross evidence of discrete stenosis. The histologic mosaic appearance of the media of the great arteries, due to elastosis and extreme disarray of the elastic lamellae, prompted a postmortem diagnosis of supravalvar aortic stenosis and suggested a diagnosis of Williams syndrome, which was subsequently confirmed by fluorescence in situ hybridization. Pediatricians and pathologists should be alerted that Williams syndrome in the newborn may present as an isolated supravalvular pulmonary stenosis, whereas supravalvular aortic stenosis becomes clinically significant only a few months later.
- Subjects :
- Williams Syndrome
Mild Dysplasia
medicine.medical_specialty
Autopsy
Pathology and Forensic Medicine
Diagnosis, Differential
Fatal Outcome
Internal medicine
Humans
Medicine
In Situ Hybridization, Fluorescence
Postmortem Diagnosis
business.industry
Infant, Newborn
Infant
General Medicine
medicine.disease
Aortic Stenosis, Supravalvular
Pulmonary Valve Stenosis
Medical Laboratory Technology
Stenosis
medicine.anatomical_structure
Great arteries
Pulmonary valve
Cardiology
Female
Williams syndrome
Chromosome Deletion
business
Supravalvular aortic stenosis
Chromosomes, Human, Pair 7
Subjects
Details
- ISSN :
- 15432165 and 00039985
- Volume :
- 127
- Database :
- OpenAIRE
- Journal :
- Archives of Pathology & Laboratory Medicine
- Accession number :
- edsair.doi.dedup.....e9ccd95449806a4d39ac0114a23bbe46