Pattern of malformations in the axial skeleton in human trisomy 18 fetuses

Journal Article · Mon Nov 11 04:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19961111)65:4<332::AID-AJMG16>3.3.CO;2-1· OSTI ID:508245

Kjaer, I ^[1]; Hansen, B F ^[2]; Keeling, J W ^[3]

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1. Univ. of Copenhagen (Denmark)
2. Hvidovre Univ. Hospital (Denmark)
3. Royal Hospital for Sick Children, Edinburgh (United Kingdom)

We examined and described the development and abnormalities of the axial 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, four in the spine, and three in the cranial base and nasal bones. Malformations occurred in the occipital field in all fetuses. This was a characteristic notching, either unilateral or bilateral, of the basilar part of the occipital bone. Nasal bones were abnormal in 8 cases, either absent or hypoplastic. Malformations were found in the thoracic and/or lumbosacral field in 7 fetuses. A single abnormality was found in the cervical spine in one fetus. The pattern of axial skeletal malformation 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 suspected. The methods applied here are unaffected by autolysis. 26 refs., 5 figs.

• OSTI ID: 508245
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 65; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BIOMEDICAL RADIOGRAPHY
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
FETUSES
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 18
SKELETAL DISEASES