Embryologic and other developmental considerations of thirty‐eight possible variants of the DiGeorge anomaly
作者:
Robert A. Thomas,
Benjamin H. Landing,
Theadis R. Wells,
John M. Opitz,
Jay Bernstein,
期刊:
American Journal of Medical Genetics
(WILEY Available online 1987)
卷期:
Volume 28,
issue S3
页码: 43-66
ISSN:0148-7299
年代: 1987
DOI:10.1002/ajmg.1320280508
出版商: Wiley Subscription Services, Inc., A Wiley Company
关键词: developmental field defect;complete DiGeorge anomaly;partial DiGeorge anomaly;branchial arch abnormality;branchial pouch abnormality
数据来源: WILEY
摘要:
AbstractThe DiGeorge anomaly (DGA) represents a polytopic developmental field defect that can be caused by a number of different chromosomal, mendelian, toxic, or metabolic factors operating in early embryonic life. If the affected field is thought to be focused on either the fourth branchial arch or the third branchial pouch, with variable cephalad or caudad extension, 38 different combinations of malformations can include DiGeorge anomalies, 24 complete and 14 partial DGA, with the constraints that the field defect must be contiguous (involvement of more than one branchial arch or pouch requires involvement of all intervening arches or pouches) and complete (all derivatives of an affected branchial arch or pouch are deficient). The types and relative frequencies of abnormalities of structures other than the thymus and parathyroid glands in these possible “subsets” of DGA are discussed, and the need for more data on their occurrence in patients diagnosed as having DGA is emphasi
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