title: Segmentation anomalies of vertebrae and ribs with other abnormalities of blastogenesis: syndromes or associations?
abstract: On the basis of two recently studied human fetuses and the historical records and remnant 19th century skeletons in the Museum Vrolik in Amsterdam, we have begun an analysis of an unusual form of somite dysgenesis. This disorder includes vertebral and costal segmentation defects with or without (distal) limb malformation and deformities, anogenital anomalies, unusual colonic atresia, abdominal wall and diaphragmatic defect, Central nervous system abnormality with large head, and severe neurohypotrophic lower limb deformities. This study suggests the existence of an axial vertebral/costal dysgenesis complex with apparently or nearly normal number of cervical vertebrae. There also is some overlap with lumbosacral agenesis but different from the autosomal recessive entities Jarcho-Levin syndrome or spondylocostal dysostosis. To date, no associated heart defects have been noted.
authors.affiliation: Department of Pathology, University of South Florida School of Medicine and Tampa General Hospital, Davis Island, Florida, USA. egilbert@tgh.org
authors.forename: Enid
authors.initials: E
authors.lastname: Gilbert-Barness
authors.forename: Roelof-Jan
authors.initials: RJ
authors.lastname: Oostra
authors.forename: Archana
authors.initials: A
authors.lastname: Agarwal
authors.forename: Holly
authors.initials: H
authors.lastname: Zhou
authors.forename: John M
authors.initials: JM
authors.lastname: Opitz
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D005865:Gestational Age; D006801:Humans; D008213:Lymphocyte Activation; D008297:Male; D012272:Ribs / Q000002:abnormalities*; D019170:Somites / Q000473:pathology*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome