| Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week. | |
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MedLine Citation:
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PMID: 8281281 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A couple who were first cousins were referred for genetic counselling because of a previous spontaneous abortion and two female stillbirths with cyclopia. In the 18th week of the mother's fifth pregnancy a holoprosencephalic fetus was diagnosed by ultrasonography. The pregnancy was terminated. Postmortem computed tomography and pathological examination revealed that the female fetus had alobar holoprosencephaly with cyclopia. Chromosomal analysis of the fetus was normal. |
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Authors:
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S Balci; B Onol; M D Erçal; M Günay; A Besim; M Eryilmaz |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 2 ISSN: 0962-8827 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 1993 Apr |
Date Detail:
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Created Date: 1994-02-17 Completed Date: 1994-02-17 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: ENGLAND |
Other Details:
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Languages: eng Pagination: 165-8 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Hacettepe University, School of Medicine, Ankara, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Induced Eye Abnormalities / genetics*, ultrasonography Female Fetus / abnormalities Genes, Recessive* Holoprosencephaly / genetics*, ultrasonography Humans Pregnancy Prenatal Diagnosis* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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