Prenatal sonographic diagnosis of Holt-Oram syndrome

Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography...

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Main Authors: Tongsong T., Chanprapaph P.
Format: Case Reports
Language:English
Published: 2014
Online Access:http://www.ncbi.nlm.nih.gov/pubmed/3502482
http://cmuir.cmu.ac.th/handle/6653943832/3345
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Institution: Chiang Mai University
Language: English
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spelling th-cmuir.6653943832-33452014-08-30T02:26:02Z Prenatal sonographic diagnosis of Holt-Oram syndrome Tongsong T. Chanprapaph P. Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revealed abnormalities in the upper limbs and heart. The limb abnormalities included bilateral absence of radii and thumbs: the left hand had no carpal or metacarpal bones, and each of the 4 fingers on that hand had only 1 phalangeal bone. Cardiac malformations included an atrial septal defect and Ebstein's anomaly. Other structures were normal. Prenatal cytogenetic analysis by cordocentesis revealed a normal 46,XY karyotype. Spontaneous labor and delivery at 34 weeks' menstrual age produced a 1,960-g male infant who died of cardiac insufficiency shortly after birth. The postnatal appearance and autopsy findings confirmed the prenatal findings. In this case, Holt-Oram syndrome was readily diagnosed by prenatal sonography. 2014-08-30T02:26:02Z 2014-08-30T02:26:02Z 2000 Case Reports 0091-2751 10641008 http://www.ncbi.nlm.nih.gov/pubmed/3502482 http://cmuir.cmu.ac.th/handle/6653943832/3345 eng
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
language English
description Holt-Oram syndrome is an autosomal dominant disorder characterized by heart defects in combination with characteristic upper-limb abnormalities. A woman with no family history of genetic diseases underwent prenatal sonography at 25 weeks' menstrual age to screen for fetal anomalies. Sonography revealed abnormalities in the upper limbs and heart. The limb abnormalities included bilateral absence of radii and thumbs: the left hand had no carpal or metacarpal bones, and each of the 4 fingers on that hand had only 1 phalangeal bone. Cardiac malformations included an atrial septal defect and Ebstein's anomaly. Other structures were normal. Prenatal cytogenetic analysis by cordocentesis revealed a normal 46,XY karyotype. Spontaneous labor and delivery at 34 weeks' menstrual age produced a 1,960-g male infant who died of cardiac insufficiency shortly after birth. The postnatal appearance and autopsy findings confirmed the prenatal findings. In this case, Holt-Oram syndrome was readily diagnosed by prenatal sonography.
format Case Reports
author Tongsong T.
Chanprapaph P.
spellingShingle Tongsong T.
Chanprapaph P.
Prenatal sonographic diagnosis of Holt-Oram syndrome
author_facet Tongsong T.
Chanprapaph P.
author_sort Tongsong T.
title Prenatal sonographic diagnosis of Holt-Oram syndrome
title_short Prenatal sonographic diagnosis of Holt-Oram syndrome
title_full Prenatal sonographic diagnosis of Holt-Oram syndrome
title_fullStr Prenatal sonographic diagnosis of Holt-Oram syndrome
title_full_unstemmed Prenatal sonographic diagnosis of Holt-Oram syndrome
title_sort prenatal sonographic diagnosis of holt-oram syndrome
publishDate 2014
url http://www.ncbi.nlm.nih.gov/pubmed/3502482
http://cmuir.cmu.ac.th/handle/6653943832/3345
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