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Prenatal Sonographic Features of CHARGE Syndrome

CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be susp...

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Autores principales: Traisrisilp, Kuntharee, Chankhunaphas, Wisit, Sittiwangkul, Rekwan, Phokaew, Chureerat, Shotelersuk, Vorasuk, Tongsong, Theera
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997219/
https://www.ncbi.nlm.nih.gov/pubmed/33671041
http://dx.doi.org/10.3390/diagnostics11030415
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author Traisrisilp, Kuntharee
Chankhunaphas, Wisit
Sittiwangkul, Rekwan
Phokaew, Chureerat
Shotelersuk, Vorasuk
Tongsong, Theera
author_facet Traisrisilp, Kuntharee
Chankhunaphas, Wisit
Sittiwangkul, Rekwan
Phokaew, Chureerat
Shotelersuk, Vorasuk
Tongsong, Theera
author_sort Traisrisilp, Kuntharee
collection PubMed
description CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers.
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spelling pubmed-79972192021-03-27 Prenatal Sonographic Features of CHARGE Syndrome Traisrisilp, Kuntharee Chankhunaphas, Wisit Sittiwangkul, Rekwan Phokaew, Chureerat Shotelersuk, Vorasuk Tongsong, Theera Diagnostics (Basel) Case Report CHARGE syndrome is a rare autosomal dominant disorder, associated with coloboma (C), heart defects (H), choanal atresia (A), retardation of growth and/or central nervous system (R), genitourinary anomalies (G) and ear abnormalities (E). Prenatal diagnosis of the syndrome is very rare but may be suspected when a combination of such abnormalities is identified. We describe a prenatally suspected case of CHARGE syndrome due to unique findings of cardiac defects (DORV) in combination with minor clues, including a structurally malformed ear with persistent non-response to an acoustic stimulation (which has never been prenatally described elsewhere), renal malrotation and growth restriction. Postnatal diagnosis was made based on confirmation of the prenatal findings and additional specific findings of bilateral coloboma, choanal atresia and ear canal stenosis. Finally, molecular genetic testing by whole exome sequencing of the neonate and her parents revealed a novel de novo heterozygous frameshift c.3506_3509dup variant in the CHD7 gene, confirming the clinical diagnosis of CHARGE syndrome. In conclusion, we describe unique prenatal features of CHARGE syndrome. Educationally, this is one of the rare examples of CHARGE syndrome, comprising all of the six specific anomalies as originally described; it is also supported by the identification of a specific genetic mutation. The identified genetic variant has never been previously reported, thereby expanding the mutational spectrum of CHD7. Finally, this case can inspire prenatal sonographers to increase awareness of subtle or minor abnormalities as genetic sonomarkers. MDPI 2021-02-28 /pmc/articles/PMC7997219/ /pubmed/33671041 http://dx.doi.org/10.3390/diagnostics11030415 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Case Report
Traisrisilp, Kuntharee
Chankhunaphas, Wisit
Sittiwangkul, Rekwan
Phokaew, Chureerat
Shotelersuk, Vorasuk
Tongsong, Theera
Prenatal Sonographic Features of CHARGE Syndrome
title Prenatal Sonographic Features of CHARGE Syndrome
title_full Prenatal Sonographic Features of CHARGE Syndrome
title_fullStr Prenatal Sonographic Features of CHARGE Syndrome
title_full_unstemmed Prenatal Sonographic Features of CHARGE Syndrome
title_short Prenatal Sonographic Features of CHARGE Syndrome
title_sort prenatal sonographic features of charge syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7997219/
https://www.ncbi.nlm.nih.gov/pubmed/33671041
http://dx.doi.org/10.3390/diagnostics11030415
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