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A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests.

作者信息

Prefumo Federico, Homfray Tessa, Jeffrey Iona, Moore Isabella, Thilaganathan Baskaran

机构信息

Fetal Medicine Unit, Department of Obstetrics and Gynaecology, St. George's Hospital Medical School, London, United Kingdom.

出版信息

Am J Med Genet A. 2003 Jul 30;120A(3):386-8. doi: 10.1002/ajmg.a.20097.

DOI:10.1002/ajmg.a.20097
PMID:12838560
Abstract

We describe three cases of a severe malformation syndrome in siblings of both sexes. The characteristic features observed were absent intrauterine ossification of an apparently normal cartilaginous spinal column; rib abnormalities, with unossified segments and posterior gaps; thoracic hypoplasia; and multiple intralobar nephrogenic rests in the kidneys. This syndrome can be identified in early pregnancy by ultrasound scans due to the lack of ossification of the thoraco-lumbar spine and its association with increased nuchal translucency thickness. We suggest that this is a newly recognized autosomal recessive syndrome.

摘要

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