A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease

BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias, all of which share in common punctate calcification of cartilage. Symptoms include shortening of limbs, cataracts, dry and scaly skin and congenital heart diseases. In autosomal recessive form,...

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Autores principales:	M Kazemian, MH Fakhraee, L Borjian, M Hassas Yeganeh
Formato:	article
Lenguaje:	EN FA
Publicado:	Babol University of Medical Sciences 2009
Materias:	chondrodysplasia punctata cardiac anomaly renal anomaly anus malposition autosomal recessive Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/075a1bef68464986aab1628fb219e48d
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spelling	oai:doaj.org-article:075a1bef68464986aab1628fb219e48d2021-11-10T09:02:35ZA Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease1561-41072251-7170https://doaj.org/article/075a1bef68464986aab1628fb219e48d2009-04-01T00:00:00Zhttp://jbums.org/article-1-3154-en.htmlhttps://doaj.org/toc/1561-4107https://doaj.org/toc/2251-7170BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias, all of which share in common punctate calcification of cartilage. Symptoms include shortening of limbs, cataracts, dry and scaly skin and congenital heart diseases. In autosomal recessive form, renal and cardiac anomalies are rare. In this report, a rare case of rhizomelic chondrodysplasia punctata (RCDP) with congenital heart disease (TOF) and renal anomalies was presented.CASE: Patient is a 16-day old male infant admitted to NICU with respiratory distress and cyanosis. He was with congenital heart disease, nose bridge hypoplasia, renal anomaly, anus malposition with no cataract. The diagnosis of chondrodysplasia punctata was based on symptoms. The infant underwent mechanical ventilation and renal failure treatment but died due to neonatal sepsis.CONCLUSION: According to reported cases, in patients with RCDP evaluations for congenital heart and renal anomalies should be considered.M Kazemian,MH FakhraeeL BorjianM Hassas YeganehBabol University of Medical Sciencesarticlechondrodysplasia punctatacardiac anomalyrenal anomalyanus malpositionautosomal recessiveMedicineRMedicine (General)R5-920ENFAMajallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 11, Iss 1, Pp 72-76 (2009)
institution	DOAJ
collection	DOAJ
language	EN FA
topic	chondrodysplasia punctata cardiac anomaly renal anomaly anus malposition autosomal recessive Medicine R Medicine (General) R5-920
spellingShingle	chondrodysplasia punctata cardiac anomaly renal anomaly anus malposition autosomal recessive Medicine R Medicine (General) R5-920 M Kazemian, MH Fakhraee L Borjian M Hassas Yeganeh A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease
description	BACKGROUND & OBJECTIVE: Chondrodysplasia punctata (CPD) describes a diverse group of bony dysplasias, all of which share in common punctate calcification of cartilage. Symptoms include shortening of limbs, cataracts, dry and scaly skin and congenital heart diseases. In autosomal recessive form, renal and cardiac anomalies are rare. In this report, a rare case of rhizomelic chondrodysplasia punctata (RCDP) with congenital heart disease (TOF) and renal anomalies was presented.CASE: Patient is a 16-day old male infant admitted to NICU with respiratory distress and cyanosis. He was with congenital heart disease, nose bridge hypoplasia, renal anomaly, anus malposition with no cataract. The diagnosis of chondrodysplasia punctata was based on symptoms. The infant underwent mechanical ventilation and renal failure treatment but died due to neonatal sepsis.CONCLUSION: According to reported cases, in patients with RCDP evaluations for congenital heart and renal anomalies should be considered.
format	article
author	M Kazemian, MH Fakhraee L Borjian M Hassas Yeganeh
author_facet	M Kazemian, MH Fakhraee L Borjian M Hassas Yeganeh
author_sort	M Kazemian,
title	A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease
title_short	A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease
title_full	A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease
title_fullStr	A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease
title_full_unstemmed	A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease
title_sort	case of rhizomelic chondrodysplasia panctata with congenital heart disease
publisher	Babol University of Medical Sciences
publishDate	2009
url	https://doaj.org/article/075a1bef68464986aab1628fb219e48d
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A Case of Rhizomelic Chondrodysplasia Panctata with Congenital Heart Disease

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