Prenatal diagnosis of a lethal multiple pterygium syndrome. Type II : Case report
Advances in ultrasound technology and sonographer's experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of le...
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Published in | Fetal diagnosis and therapy Vol. 13; no. 1; pp. 35 - 38 |
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Main Authors | , , , , |
Format | Journal Article |
Language | English |
Published |
Freiburg
Karger
1998
Basel S. Karger AG Paris |
Subjects | |
Online Access | Get full text |
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Summary: | Advances in ultrasound technology and sonographer's experience lead to the description of many rare syndromes and malformations through prenatal diagnosis. Diaphragmatic hernia is a rather common malformation but can be an indicator of different syndromes. We report the prenatal diagnosis of lethal multiple pterygium syndrome type II which has been established in the 34th week of pregnancy. The sonographically detectable symptoms consisted of polyhydramnios, hygroma colli, diaphragmatic hernia, scoliosis, short forearms, hypokinesia of the fetus and pterygia over the large joints. Labour was induced in the 34th week of pregnancy; the neonate died shortly after vaginal delivery as a result of the pulmonary hypoplasia. A multidisciplinary approach in prenatal assessment may help to clarify difficult diagnostic problems and may be of direct benefit for the pregnant patient. |
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Bibliography: | ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 |
ISSN: | 1015-3837 1421-9964 |
DOI: | 10.1159/000020798 |