| Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. | |
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MedLine Citation:
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PMID: 18564500 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a family with two consequent sibs with anophthalmia and cleft lip and palate. A 27 year old woman married to her first cousin was counseled for anophthalmia and cleft lip and palate detected during routine fetal ultrasonographic examination on the 23rd week of the pregnancy. Her obstetric history revealed a healthy girl aged 7 years and a boy with anophthalmia and cleft lip and palate who lived for 20 days in the neonatal intensive care unit. The current pregnancy was terminated after the diagnosis, and post mortem examination of the fetus revealed pre-maxilla agenesis, anophthalmia, cerebral ventricular dilatation, adrenal hypoplasia and single umbilical artery. Chromosome analysis resulted in normal karyotypes of the fetus and both parents. The inheritance pattern was regarded as autosomal recessive and the family was informed about the condition and risks during genetic counseling. |
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Authors:
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O Ozalp; E E Ozcimen; Z Yilmaz; F Yanik; F I Sahin |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Genetic counseling (Geneva, Switzerland) Volume: 19 ISSN: 1015-8146 ISO Abbreviation: Genet. Couns. Publication Date: 2008 |
Date Detail:
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Created Date: 2008-06-20 Completed Date: 2008-09-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9015261 Medline TA: Genet Couns Country: Switzerland |
Other Details:
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Languages: eng Pagination: 43-6 Citation Subset: IM |
Affiliation:
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Baskent University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Induced Adrenal Glands / abnormalities* Adult Anophthalmos / complications, genetics* Cleft Lip / complications, diagnosis, genetics Cleft Palate / complications, diagnosis, genetics Female Fetal Diseases / diagnosis Genetic Counseling Humans Pregnancy Pregnancy Trimester, Second Prenatal Diagnosis Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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