title: A case of multiple vertebral segmentation defects, unilateral renal agenesis, and an unusual 'Cooley-like' hand appearance.
abstract: We report an apparently healthy 5-year-old girl with multiple vertebral segmentation defects, partial fusion of some left ribs, abnormal vertebral arches, left renal agenesis, and a 'Cooley-like' hand appearance radiologically. The costovertebral defects were extensive but not contiguous, which establishes this case as being different from the Mendelian forms of spondylocostal dysostosis. The extended skeletal involvement raises the question as to how this case is classified within this heterogeneous group of disorders and we believe this might represent a new and distinct entity.
authors.affiliation: Regional Service for Diagnosis, Prevention and Care of Birth Defects, Department of Medicine and Aging Sciences, Section of Preventive and Social Pediatrics Neonatal Intensive Care Unit Paediatric Surgery Unit 'Spirito Santo' Hospital of Pescara, 'G. D'Annunzio' University, Chieti National Association against Microcythemia, Rome, Italy Clinical Genetics Department, Royal Devon and Exeter Hospital, Exeter, UK.
authors.forename: Rosanna
authors.initials: R
authors.lastname: Pallotta
authors.forename: Anita
authors.initials: A
authors.lastname: Saponari
authors.forename: Sergio
authors.initials: S
authors.lastname: Domizio
authors.forename: Antonio
authors.initials: A
authors.lastname: Amato
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Lelli-Chiesa
authors.forename: Peter D
authors.initials: PD
authors.lastname: Turnpenny
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D004413:Dysostoses / Q000473:pathology; D005260:Female; D005528:Foot / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging