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Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound
BACKGROUND: Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphis...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463774/ https://www.ncbi.nlm.nih.gov/pubmed/26124900 http://dx.doi.org/10.12659/PJR.894188 |
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author | Mistry, Kewal A. Suthar, Pokhraj P. Bhesania, Siddharth R. Patel, Ankitkumar |
author_facet | Mistry, Kewal A. Suthar, Pokhraj P. Bhesania, Siddharth R. Patel, Ankitkumar |
author_sort | Mistry, Kewal A. |
collection | PubMed |
description | BACKGROUND: Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. CASE REPORT: A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). CONCLUSIONS: Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity. |
format | Online Article Text |
id | pubmed-4463774 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-44637742015-06-29 Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound Mistry, Kewal A. Suthar, Pokhraj P. Bhesania, Siddharth R. Patel, Ankitkumar Pol J Radiol Case Report BACKGROUND: Jeune syndrome is a rare congenital malformation with a reported incidence of 1 in 100,000–130,000 live births. Thoracic hypoplasia is the most striking abnormality of this disorder. Here we report a case of Jeune syndrome with marked thoracic hypoplasia, micromelia and facial dysmorphism, which was diagnosed on a second-trimester antenatal real-time three-dimensional ultrasound. CASE REPORT: A 24-year-old primigravida came for routine anomaly scan at 19 weeks of gestation. Transabdominal grey scale and real time 3D ultrasound (US) was done with GE Logiq P5 with curvilinear array transducers (4C and 4D3C-L). US findings were consistent with the diagnosis of Jeune syndrome (Asphyxiating thoracic dysplasia). CONCLUSIONS: Jeune syndrome is an extremely rare congenital disorder with a spectrum of abnormalities of which thoracic hypoplasia is the most striking. It can be diagnosed on early antenatal US by its characteristic skeletal and morphological features which can guide further management of pregnancy in form of termination or preparation for surgical correction of the deformity. International Scientific Literature, Inc. 2015-06-07 /pmc/articles/PMC4463774/ /pubmed/26124900 http://dx.doi.org/10.12659/PJR.894188 Text en © Pol J Radiol, 2015 This is an open access article. Unrestricted non-commercial use is permitted provided the original work is properly cited. |
spellingShingle | Case Report Mistry, Kewal A. Suthar, Pokhraj P. Bhesania, Siddharth R. Patel, Ankitkumar Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound |
title | Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound |
title_full | Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound |
title_fullStr | Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound |
title_full_unstemmed | Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound |
title_short | Antenatal Diagnosis of Jeune Syndrome (Asphyxiating Thoracic Dysplasia) with Micromelia and Facial Dysmorphism on Second-Trimester Ultrasound |
title_sort | antenatal diagnosis of jeune syndrome (asphyxiating thoracic dysplasia) with micromelia and facial dysmorphism on second-trimester ultrasound |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4463774/ https://www.ncbi.nlm.nih.gov/pubmed/26124900 http://dx.doi.org/10.12659/PJR.894188 |
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