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
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.