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The KBG syndrome: Case report

INTRODUCTION: The KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies. CASE PRESENTATION: A 32 years old woman, Caucasian race, weight 57 Kg, a...

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Autores principales: Morghen, Ilaria, Ferri, Enrico
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2565666/
https://www.ncbi.nlm.nih.gov/pubmed/18822138
http://dx.doi.org/10.1186/1757-1626-1-186
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author Morghen, Ilaria
Ferri, Enrico
author_facet Morghen, Ilaria
Ferri, Enrico
author_sort Morghen, Ilaria
collection PubMed
description INTRODUCTION: The KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies. CASE PRESENTATION: A 32 years old woman, Caucasian race, weight 57 Kg, affected by KBG syndrome was sent to our clinics for preoperative anaesthesia evaluation. She was schedules for left ossicular reconstruction under general anaesthesia for bilateral hearing loss. A psycho-motor retardation was associated to morphological anomalies such as short neck, hyperlordosis without neck extension imparirment, craniofacial anomalies and dento-skeletal abnormalities. An echocardiography showed the presence of interatrial defect with left-to-right shunt. The patient was sent to a cardiac surgery centre. CONCLUSION: Perioperative evaluation of patients affected by KBG syndrome must take into consideration the management of difficult airways, due to the associated craniofacial dysmorphism. The possible presence of cardiac anomalies in the KBG syndrome is currently being evalueted. In this report the finding of cardiomegaly and congestion of the pulmonary circulation was attributed to presence of an interatrial defect with left-to-right shunt. The risk of cardiopulmonary failure led us to ask for a cardiac surgery consult. Perioperative management of these patients should be extremely accurate, even in the case of minor surgery, and should include also chest X-rays and echocardiography evaluation.
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spelling pubmed-25656662008-10-10 The KBG syndrome: Case report Morghen, Ilaria Ferri, Enrico Cases J Case Report INTRODUCTION: The KBG syndrome is a rare autosomal dominant condition, first described by Hermann et al. in 1975. Fundamental findings are: mild development delay, short stature, craniofacial dysmorphism and skeletal anomalies. CASE PRESENTATION: A 32 years old woman, Caucasian race, weight 57 Kg, affected by KBG syndrome was sent to our clinics for preoperative anaesthesia evaluation. She was schedules for left ossicular reconstruction under general anaesthesia for bilateral hearing loss. A psycho-motor retardation was associated to morphological anomalies such as short neck, hyperlordosis without neck extension imparirment, craniofacial anomalies and dento-skeletal abnormalities. An echocardiography showed the presence of interatrial defect with left-to-right shunt. The patient was sent to a cardiac surgery centre. CONCLUSION: Perioperative evaluation of patients affected by KBG syndrome must take into consideration the management of difficult airways, due to the associated craniofacial dysmorphism. The possible presence of cardiac anomalies in the KBG syndrome is currently being evalueted. In this report the finding of cardiomegaly and congestion of the pulmonary circulation was attributed to presence of an interatrial defect with left-to-right shunt. The risk of cardiopulmonary failure led us to ask for a cardiac surgery consult. Perioperative management of these patients should be extremely accurate, even in the case of minor surgery, and should include also chest X-rays and echocardiography evaluation. BioMed Central 2008-09-26 /pmc/articles/PMC2565666/ /pubmed/18822138 http://dx.doi.org/10.1186/1757-1626-1-186 Text en Copyright © 2008 Morghen and Ferri; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Morghen, Ilaria
Ferri, Enrico
The KBG syndrome: Case report
title The KBG syndrome: Case report
title_full The KBG syndrome: Case report
title_fullStr The KBG syndrome: Case report
title_full_unstemmed The KBG syndrome: Case report
title_short The KBG syndrome: Case report
title_sort kbg syndrome: case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2565666/
https://www.ncbi.nlm.nih.gov/pubmed/18822138
http://dx.doi.org/10.1186/1757-1626-1-186
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