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Williams Syndrome With Rare Ureteric Abnormality

Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by infantile hypercalcemia, short stature, a varying degree of mental retardation, elfin-like facial features, and cardiovascular abnormalities, including systemic hypertension, aortic hypoplasia...

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Autores principales: Khan, Jaffar, Al-obaidy, Khaleel I, Fan, Rong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443071/
https://www.ncbi.nlm.nih.gov/pubmed/34540437
http://dx.doi.org/10.7759/cureus.17210
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author Khan, Jaffar
Al-obaidy, Khaleel I
Fan, Rong
author_facet Khan, Jaffar
Al-obaidy, Khaleel I
Fan, Rong
author_sort Khan, Jaffar
collection PubMed
description Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by infantile hypercalcemia, short stature, a varying degree of mental retardation, elfin-like facial features, and cardiovascular abnormalities, including systemic hypertension, aortic hypoplasia, coarctation of the aorta, and valvular heart disease (aortic and pulmonic stenosis, mitral valve prolapsed or bicuspid aortic valve). It is also characterized by friendly and outgoing personality. The majority of WS cases are sporadic, while few are familial. Both sporadic and familial cases are due to deletion of chromosome 7 (7q11.23). Herein, we present an autopsy case of a 16-day-old male infant born to a 25-year-old mother with a history of William syndrome. Prenatal echocardiogram showed supravalvular aortic stenosis and pulmonary stenosis. The postnatal course was complicated by feeding difficulties and desaturation. Gross autopsy findings included generalized edema, macrocephaly with short neck, and multiple facial anomalies (mandibular hypoplasia, depressed nasal bridge, long philtrum, ear malformation, and wide mouth). The heart was hypertrophied with obstructed ventricles and rudimentary, hypoplastic aortic root. An enlarged, dilated, and tortuous left ureter was a unique finding to this case, in addition to variation in the renal arteries' size and an small bowel outpouching located 33 cm from the ileocecal valve. Cytogenetic analysis revealed deletion of chromosome 7 (7q11.23). In conclusion, majority of WS cases are sporadic, and few are familial and are inherited as autosomal dominant.
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spelling pubmed-84430712021-09-17 Williams Syndrome With Rare Ureteric Abnormality Khan, Jaffar Al-obaidy, Khaleel I Fan, Rong Cureus Pathology Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by infantile hypercalcemia, short stature, a varying degree of mental retardation, elfin-like facial features, and cardiovascular abnormalities, including systemic hypertension, aortic hypoplasia, coarctation of the aorta, and valvular heart disease (aortic and pulmonic stenosis, mitral valve prolapsed or bicuspid aortic valve). It is also characterized by friendly and outgoing personality. The majority of WS cases are sporadic, while few are familial. Both sporadic and familial cases are due to deletion of chromosome 7 (7q11.23). Herein, we present an autopsy case of a 16-day-old male infant born to a 25-year-old mother with a history of William syndrome. Prenatal echocardiogram showed supravalvular aortic stenosis and pulmonary stenosis. The postnatal course was complicated by feeding difficulties and desaturation. Gross autopsy findings included generalized edema, macrocephaly with short neck, and multiple facial anomalies (mandibular hypoplasia, depressed nasal bridge, long philtrum, ear malformation, and wide mouth). The heart was hypertrophied with obstructed ventricles and rudimentary, hypoplastic aortic root. An enlarged, dilated, and tortuous left ureter was a unique finding to this case, in addition to variation in the renal arteries' size and an small bowel outpouching located 33 cm from the ileocecal valve. Cytogenetic analysis revealed deletion of chromosome 7 (7q11.23). In conclusion, majority of WS cases are sporadic, and few are familial and are inherited as autosomal dominant. Cureus 2021-08-16 /pmc/articles/PMC8443071/ /pubmed/34540437 http://dx.doi.org/10.7759/cureus.17210 Text en Copyright © 2021, Khan et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pathology
Khan, Jaffar
Al-obaidy, Khaleel I
Fan, Rong
Williams Syndrome With Rare Ureteric Abnormality
title Williams Syndrome With Rare Ureteric Abnormality
title_full Williams Syndrome With Rare Ureteric Abnormality
title_fullStr Williams Syndrome With Rare Ureteric Abnormality
title_full_unstemmed Williams Syndrome With Rare Ureteric Abnormality
title_short Williams Syndrome With Rare Ureteric Abnormality
title_sort williams syndrome with rare ureteric abnormality
topic Pathology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8443071/
https://www.ncbi.nlm.nih.gov/pubmed/34540437
http://dx.doi.org/10.7759/cureus.17210
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