Abstract:
:A fetus was diagnosed on ultrasound scan as having sacral spina bifida and a ventricular septal defect in the heart. At postmortem examination the cardiac defect was found to be a conotruncal abnormality, and there was a cleft palate, some facial dysmorphism as well as the spina bifida. A diagnosis of Kousseff syndrome was made, but detailed cytogenetics subsequently revealed a 22q11.2 deletion. In the light of these findings, and on review of the literature, we suggest that spina bifida is recognized as a feature of the variable phenotype associated with this microdeletion.
journal_name
Clin Dysmorpholjournal_title
Clinical dysmorphologyauthors
Seller MJ,Mohammed S,Russell J,Ogilvie Cdoi
10.1097/00019605-200204000-00007subject
Has Abstractpub_date
2002-04-01 00:00:00pages
113-5issue
2eissn
0962-8827issn
1473-5717journal_volume
11pub_type
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/MCD.0b013e3280f6cff2
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pub_type: 杂志文章,评审
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
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journal_title:Clinical dysmorphology
pub_type: 杂志文章
doi:10.1097/00019605-199710000-00004
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:
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journal_title:Clinical dysmorphology
pub_type: 信件
doi:
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journal_title:Clinical dysmorphology
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