title: A newly recognized autosomal recessive syndrome with abnormal vertebral ossification, rib abnormalities, and nephrogenic rests.
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.
authors.affiliation: Fetal Medicine Unit, Department of Obstetrics and Gynaecology, St. George's Hospital Medical School, London, United Kingdom. fprefumo@sghms.ac.uk
authors.forename: Federico
authors.initials: F
authors.lastname: Prefumo
authors.forename: Tessa
authors.initials: T
authors.lastname: Homfray
authors.forename: Iona
authors.initials: I
authors.lastname: Jeffrey
authors.forename: Isabella
authors.initials: I
authors.lastname: Moore
authors.forename: Baskaran
authors.initials: B
authors.lastname: Thilaganathan
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000235:genetics / Q000503:physiopathology; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012272:Ribs / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*