{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T06:07:41Z","timestamp":1770790061210,"version":"3.50.0"},"reference-count":22,"publisher":"Archives of Pathology and Laboratory Medicine","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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 \u201cwashed leather\u201d 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.<\/jats:p>","DOI":"10.5858\/2003-127-e367-nwspaa","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T10:00:30Z","timestamp":1612778430000},"page":"e367-e370","source":"Crossref","is-referenced-by-count":3,"title":["Neonatal Williams Syndrome Presenting as an Isolated Supravalvular Pulmonary Stenosis"],"prefix":"10.5858","volume":"127","author":[{"given":"Cira R. T.","family":"di Gioia","sequence":"first","affiliation":[{"name":"From the Department of Experimental Medicine and Pathology (Drs di Gioia, d'Amati, and Gallo) and the Institute of Forensic Medicine (Drs Ciallella and Parroni), University La Sapienza, Rome, Italy; and the Medical Genetic Service, Department of Laboratory Medicine, Tor Vergata University Hospital, Rome, Italy (Dr Nardone)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Costantino","family":"Ciallella","sequence":"additional","affiliation":[{"name":"From the Department of Experimental Medicine and Pathology (Drs di Gioia, d'Amati, and Gallo) and the Institute of Forensic Medicine (Drs Ciallella and Parroni), University La Sapienza, Rome, Italy; and the Medical Genetic Service, Department of Laboratory Medicine, Tor Vergata University Hospital, Rome, Italy (Dr Nardone)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulia","family":"d'Amati","sequence":"additional","affiliation":[{"name":"From the Department of Experimental Medicine and Pathology (Drs di Gioia, d'Amati, and Gallo) and the Institute of Forensic Medicine (Drs Ciallella and Parroni), University La Sapienza, Rome, Italy; and the Medical Genetic Service, Department of Laboratory Medicine, Tor Vergata University Hospital, Rome, Italy (Dr Nardone)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Parroni","sequence":"additional","affiliation":[{"name":"From the Department of Experimental Medicine and Pathology (Drs di Gioia, d'Amati, and Gallo) and the Institute of Forensic Medicine (Drs Ciallella and Parroni), University La Sapienza, Rome, Italy; and the Medical Genetic Service, Department of Laboratory Medicine, Tor Vergata University Hospital, Rome, Italy (Dr Nardone)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna Maria","family":"Nardone","sequence":"additional","affiliation":[{"name":"From the Department of Experimental Medicine and Pathology (Drs di Gioia, d'Amati, and Gallo) and the Institute of Forensic Medicine (Drs Ciallella and Parroni), University La Sapienza, Rome, Italy; and the Medical Genetic Service, Department of Laboratory Medicine, Tor Vergata University Hospital, Rome, Italy (Dr Nardone)"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pietro","family":"Gallo","sequence":"additional","affiliation":[{"name":"From the Department of Experimental Medicine and Pathology (Drs di Gioia, d'Amati, and Gallo) and the Institute of Forensic Medicine (Drs Ciallella and Parroni), University La Sapienza, Rome, Italy; and the Medical Genetic Service, Department of Laboratory Medicine, Tor Vergata University Hospital, Rome, Italy (Dr Nardone)"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3906","reference":[{"key":"i1543-2165-127-9-e367-b1","series-title":"Circulation","first-page":"1311","article-title":"Supravalvular aortic stenosis.","volume":"24","author":"Williams, J. C. P.","year":"1961","unstructured":"Williams, J. C. P., B. G.Barratt-Boyes, and J. B.Lowe. Supravalvular aortic stenosis.Circulation1961. 24:1311\u20131318."},{"key":"i1543-2165-127-9-e367-b2","series-title":"Genome Res","first-page":"3","article-title":"Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.","volume":"12","author":"DeSilva, U.","year":"2002","unstructured":"DeSilva, U., L.Elnitski, and J. R.Idol. et al. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.Genome Res2002. 12:3\u201315."},{"key":"i1543-2165-127-9-e367-b3","series-title":"Am J Med Genet","first-page":"478","article-title":"Williams syndrome: autosomal dominant inheritance.","volume":"47","author":"Morris, C. A.","year":"1993","unstructured":"Morris, C. A., I. T.Thomas, and F.Greenberg. Williams syndrome: autosomal dominant inheritance.Am J Med Genet1993. 47:478\u2013481."},{"key":"i1543-2165-127-9-e367-b4","series-title":"Clin Pediatr","first-page":"189","article-title":"Williams-Beuren syndrome: an update and review for the primary phisician.","volume":"38","author":"Lashkari, A.","year":"1999","unstructured":"Lashkari, A., A. K.Smith, and J. M.Graham. Williams-Beuren syndrome: an update and review for the primary phisician.Clin Pediatr1999. 38:189\u2013208."},{"key":"i1543-2165-127-9-e367-b5","series-title":"Pediatr Int","first-page":"322","article-title":"Sudden death of 21-year-old female with Williams syndrome showing rare complications.","volume":"42","author":"Imashuku, S.","year":"2000","unstructured":"Imashuku, S., S.Hayashi, K.Kuriyama, S.Hibi, Y.Tabata, and S.Todo. Sudden death of 21-year-old female with Williams syndrome showing rare complications.Pediatr Int2000. 42:322\u2013324."},{"key":"i1543-2165-127-9-e367-b6","series-title":"Hum Genet","first-page":"444","article-title":"Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.","volume":"96","author":"Mari, A.","year":"1995","unstructured":"Mari, A., F.Amati, and R.Mingarelli. et al. Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.Hum Genet1995. 96:444\u2013448."},{"key":"i1543-2165-127-9-e367-b7","series-title":"Br Heart J","first-page":"375","article-title":"Familial arteriopathy with associated pulmonary and systemic arterial stenosis.","volume":"31","author":"Mc Donald, A. H.","year":"1969","unstructured":"Mc Donald, A. H., L. M.Gerlis, and J.Somerville. Familial arteriopathy with associated pulmonary and systemic arterial stenosis.Br Heart J1969. 31:375\u2013385."},{"key":"i1543-2165-127-9-e367-b8","series-title":"J Pediatr","first-page":"926","article-title":"Sudden death in Williams syndrome: report of ten cases.","volume":"129","author":"Bird, L. M.","year":"1996","unstructured":"Bird, L. M., G. F.Billman, and R. V.Lacro. et al. Sudden death in Williams syndrome: report of ten cases.J Pediatr1996. 129:926\u2013931."},{"key":"i1543-2165-127-9-e367-b9","series-title":"Circulation","first-page":"586","article-title":"Pathology of left ventricular outflow tract obstruction.","volume":"31","author":"Edwards, J. E.","year":"1965","unstructured":"Edwards, J. E.\n          \n          Pathology of left ventricular outflow tract obstruction.\n          Circulation\n          1965. 31:586\u2013599."},{"key":"i1543-2165-127-9-e367-b10","series-title":"Br Heart J","first-page":"472","article-title":"\u2018Isolated\u2019 pulmonary valve stenosis as part of more widespread cardiovascular disease.","volume":"638","author":"Becu, L.","year":"1976","unstructured":"Becu, L., J.Somerville, and A.Gallo. \u2018Isolated\u2019 pulmonary valve stenosis as part of more widespread cardiovascular disease.Br Heart J1976. 638:472\u2013482."},{"key":"i1543-2165-127-9-e367-b11","series-title":"J Med Genet","first-page":"554","article-title":"Cardiovascular manifestations in 75 patients with Williams syndrome.","volume":"39","author":"Eronen, M.","year":"2002","unstructured":"Eronen, M., M.Peippo, and A.Hiippala. et al. Cardiovascular manifestations in 75 patients with Williams syndrome.J Med Genet2002. 39:554\u2013558."},{"key":"i1543-2165-127-9-e367-b1","series-title":"Circulation","first-page":"1311","article-title":"Supravalvular aortic stenosis.","volume":"24","author":"Williams, J. C. P.","year":"1961","unstructured":"Williams, J. C. P., B. G.Barratt-Boyes, and J. B.Lowe. Supravalvular aortic stenosis.Circulation1961. 24:1311\u20131318."},{"key":"i1543-2165-127-9-e367-b2","series-title":"Genome Res","first-page":"3","article-title":"Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.","volume":"12","author":"DeSilva, U.","year":"2002","unstructured":"DeSilva, U., L.Elnitski, and J. R.Idol. et al. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome.Genome Res2002. 12:3\u201315."},{"key":"i1543-2165-127-9-e367-b3","series-title":"Am J Med Genet","first-page":"478","article-title":"Williams syndrome: autosomal dominant inheritance.","volume":"47","author":"Morris, C. A.","year":"1993","unstructured":"Morris, C. A., I. T.Thomas, and F.Greenberg. Williams syndrome: autosomal dominant inheritance.Am J Med Genet1993. 47:478\u2013481."},{"key":"i1543-2165-127-9-e367-b4","series-title":"Clin Pediatr","first-page":"189","article-title":"Williams-Beuren syndrome: an update and review for the primary phisician.","volume":"38","author":"Lashkari, A.","year":"1999","unstructured":"Lashkari, A., A. K.Smith, and J. M.Graham. Williams-Beuren syndrome: an update and review for the primary phisician.Clin Pediatr1999. 38:189\u2013208."},{"key":"i1543-2165-127-9-e367-b5","series-title":"Pediatr Int","first-page":"322","article-title":"Sudden death of 21-year-old female with Williams syndrome showing rare complications.","volume":"42","author":"Imashuku, S.","year":"2000","unstructured":"Imashuku, S., S.Hayashi, K.Kuriyama, S.Hibi, Y.Tabata, and S.Todo. Sudden death of 21-year-old female with Williams syndrome showing rare complications.Pediatr Int2000. 42:322\u2013324."},{"key":"i1543-2165-127-9-e367-b6","series-title":"Hum Genet","first-page":"444","article-title":"Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.","volume":"96","author":"Mari, A.","year":"1995","unstructured":"Mari, A., F.Amati, and R.Mingarelli. et al. 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E.\n          \n          Pathology of left ventricular outflow tract obstruction.\n          Circulation\n          1965. 31:586\u2013599."},{"key":"i1543-2165-127-9-e367-b10","series-title":"Br Heart J","first-page":"472","article-title":"\u2018Isolated\u2019 pulmonary valve stenosis as part of more widespread cardiovascular disease.","volume":"638","author":"Becu, L.","year":"1976","unstructured":"Becu, L., J.Somerville, and A.Gallo. \u2018Isolated\u2019 pulmonary valve stenosis as part of more widespread cardiovascular disease.Br Heart J1976. 638:472\u2013482."},{"key":"i1543-2165-127-9-e367-b11","series-title":"J Med Genet","first-page":"554","article-title":"Cardiovascular manifestations in 75 patients with Williams syndrome.","volume":"39","author":"Eronen, M.","year":"2002","unstructured":"Eronen, M., M.Peippo, and A.Hiippala. et al. 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