LOWER MESODERMAL DEFECTS - A COMMON-CAUSE OF FETAL AND EARLY NEONATALDEATH

Authors
Citation
Rm. Pauli, LOWER MESODERMAL DEFECTS - A COMMON-CAUSE OF FETAL AND EARLY NEONATALDEATH, American journal of medical genetics, 50(2), 1994, pp. 154-172
Citations number
60
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
50
Issue
2
Year of publication
1994
Pages
154 - 172
Database
ISI
SICI code
0148-7299(1994)50:2<154:LMD-AC>2.0.ZU;2-5
Abstract
Among the first 1,130 referrals to the Wisconsin Stillbirth Service Pr ogram 17 infants have been recognized to share phenotypic characterist ics involving the genital, urinary, lower gastrointestinal, and axial skeletal systems. The pattern of abnormalities identified appears to b e limited to structures sharing a common embryologic origin. These fea tures, for the most part, are shown to be nonrandomly associated. No c learly definable sub-groups within this population are demonstrable. T he pattern of abnormalities is defined to include abnormalities of the following structures as pathogenetically primary features: lumbosacra l vertebrae, kidneys, ureters, uterus/fallopian tubes, vagina, bladder , urethra, adrenals, gonads, anorectum, external genitalia, and umbili cal arteries. An embryologic mechanism is proposed which explains this non-random association as arising secondary to disruption of structur es derived from the lower portion of the primitive intraembryonic meso derm. The Lower Mesodermal Defects Sequence appears to be a rather com mon (and under-recognized) cause of stillbirth and immediate neonatal death. (C) 1994 Wiley-Liss, Inc.