PATTERN OF MALFORMATIONS IN THE AXIAL SKELETON IN HUMAN TRISOMY-18 FETUSES

Citation
I. Kjaer et al., PATTERN OF MALFORMATIONS IN THE AXIAL SKELETON IN HUMAN TRISOMY-18 FETUSES, American journal of medical genetics, 65(4), 1996, pp. 332-336
Citations number
26
Categorie Soggetti
Genetics & Heredity
ISSN journal
01487299
Volume
65
Issue
4
Year of publication
1996
Pages
332 - 336
Database
ISI
SICI code
0148-7299(1996)65:4<332:POMITA>2.0.ZU;2-H
Abstract
We examined and described the development and abnormalities of the axi al skeleton in 10 human trisomy 18 fetuses, Whole-body radiographs and radiographs of midsagittal tissue blocks of the cranial base and the spine were studied, In 3 fetuses no spinal radiographs were available, Seven osseous regions or fields along the body axis were analyzed, fo ur in the spine, and three in the cranial base and nasal bones. Malfor mations occurred in the occipital field in all fetuses. This was a cha racteristic notching, either unilateral or bilateral, of the basilar p art of the occipital bone. Nasal bones were abnormal in 8 cases, eithe r absent or hypoplastic. Malformations were found in the thoracic and/ or lumbosacral field in 7 fetuses. A single abnormality was found in t he cervical spine in one fetus. The pattern of axial skeletal malforma tion in trisomy 18 fetuses recorded in the present study has not been described previously Axial skeletal radiography should be included in autopsies of fetuses when chromosome disorders are present or suspecte d. The methods applied here are unaffected by autolysis. (C) 1996 Wile y-Liss, Inc.