| Bruck syndrome: second antenatal diagnosis. | |
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MedLine Citation:
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PMID: 17003551 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Bruck syndrome is characterized by the association of arthrogryposis and osteogenesis imperfecta. It is a distinct autosomal recessive disorder associated with normal collagen I. The main features are osteoporosis, long bone bowing and scoliosis due to vertebral deformities and congenital joint contractures. We describe a French girl who was born with ankle and wrist contractures (second antenatal discovery). |
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Authors:
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F Cuillier; J L Alessandri; P Lemaire; X Fritel; L Harper |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2006-09-21 |
Journal Detail:
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Title: Fetal diagnosis and therapy Volume: 22 ISSN: 1015-3837 ISO Abbreviation: Fetal. Diagn. Ther. Publication Date: 2007 |
Date Detail:
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Created Date: 2006-12-28 Completed Date: 2007-02-06 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9107463 Medline TA: Fetal Diagn Ther Country: Switzerland |
Other Details:
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Languages: eng Pagination: 23-8 Citation Subset: IM |
Affiliation:
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Department of Gynecology, Hôpital Felix Guyon, Saint-Denis, Réunion, France. fabrice.cuillier@wanadoo.fr |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Arthrogryposis / diagnosis* Female Humans Infant, Newborn Osteogenesis Imperfecta / diagnosis* Pregnancy Prenatal Diagnosis* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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