| Tetra-amelia and lung hypo/aplasia syndrome: new case report and review. | |
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MedLine Citation:
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PMID: 18837045 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Tetra-amelia is a rare malformation that may be associated with other anomalies and is usually inherited in an autosomal recessive pattern. We describe a fetus, born to a nonconsanguineous couple, with tetra-amelia, bilateral cleft lip and palate and bilateral lung agenesis, without other anomalies. Karyotype was normal (46,XX) and premature centromere separation was excluded. No mutation was identified upon molecular analysis of WNT3, HS6ST1, and HS6ST3. We reviewed the literature and the differential diagnosis to clarify the clinical delineation of conditions associated with tetra-amelia. The present report describes the sixth family with this pattern of malformations and reinforces the evidence that the "tetra-amelia and lung hypo/aplasia syndrome" is a distinct autosomal recessive condition, with no identified gene thus far. |
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Authors:
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Sérgio B Sousa; Raquel Pina; Lina Ramos; Naigel Pereira; Martin Krahn; Wiktor Borozdin; Jürgen Kohlhase; Marta Amorim; Katia Gonnet; Nicolas Lévy; Isabel M Carreira; Ana Bela Couceiro; Jorge M Saraiva |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 146A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2008 Nov |
Date Detail:
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Created Date: 2008-11-03 Completed Date: 2008-12-09 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2799-803 Citation Subset: IM |
Copyright Information:
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Copyright 2008 Wiley-Liss, Inc. |
Affiliation:
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Serviço de Genética Médica, Centro Hospitalar de Coimbra, Coimbra, Portugal. sbsousa@hpc.chc.min-saude.pt |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adolescent Cleft Lip / genetics Cleft Palate / genetics Ectromelia / genetics* Female Fetus / pathology Genes, Recessive Humans Lung / abnormalities* Phenotype Pregnancy Syndrome |
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