| Visceral anomalies in the Apert syndrome. | |
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MedLine Citation:
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PMID: 8456856 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on visceral anomalies found in 136 patients with Apert syndrome. Autopsies were only performed on 12 of these cases. Thus, the percentage of anomalies found in our patients should be considered a minimum estimate because of the possibility of clinically silent visceral anomalies, minor internal anomalies, and anatomic variations. Cardiovascular and genitourinary anomalies were found most commonly, occurring in 10% and 9.6%, respectively. As expected, complex and multiple cardiac anomalies were frequently associated with early death. Among genitourinary anomalies, hydronephrosis (3%) and cryptorchidism (4.5%, n = 66 males) occurred most commonly. In contrast, anomalies of the respiratory system (1.5%) and gastrointestinal anomalies (1.5%) occurred with lower frequency. The finding of a solid cartilaginous trachea is particularly important because no case was diagnosed during life but rather, only at autopsy. Because cardiovascular and genitourinary anomalies occur with significant frequency, they should be considered in the workup of all Apert newborn infants. We also recommend MRI study of the trachea in any infant with signs and symptoms of lower respiratory compromise. |
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Authors:
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M M Cohen; S Kreiborg |
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Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: American journal of medical genetics Volume: 45 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1993 Mar |
Date Detail:
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Created Date: 1993-04-22 Completed Date: 1993-04-22 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 758-60 Citation Subset: IM |
Affiliation:
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Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acrocephalosyndactylia
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complications,
pathology* Digestive System Abnormalities Female Heart Defects, Congenital / complications Humans Male Respiratory System Abnormalities Urogenital Abnormalities |
| Comments/Corrections | |
Comment In:
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Am J Med Genet. 1995 Jul 31;58(1):94-6
[PMID:
7573165
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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