Literature DB >> 12195301

Gracile bone dysplasias.

Kazimierz Kozlowski1, John Masel, David O Sillence, Susan Arbuckle, Vera Juttnerova.   

Abstract

Gracile bone dysplasias constitute a group of disorders characterised by extremely slender bones with or without fractures. We report four newborns, two of whom showed multiple fractures. Two babies had osteocraniostenosis and one had features of oligohydramnios sequence. The diagnosis in the fourth newborn, which showed thin long bones and clavicles and extremely thin, poorly ossified ribs, is uncertain. Exact diagnosis of a gracile bone dysplasia is important for genetic counselling and medico-legal reasons.

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Year:  2002        PMID: 12195301     DOI: 10.1007/s00247-002-0719-2

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  4 in total

Review 1.  Pansynostosis: a review.

Authors:  Jeffrey P Blount; Robert G Louis; R Shane Tubbs; John H Grant
Journal:  Childs Nerv Syst       Date:  2007-05-08       Impact factor: 1.475

Review 2.  The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.

Authors:  Rebecca Siu Ga Tan; Christy Hui Lin Lee; Henrik Dimke; R Todd Alexander
Journal:  Exp Biol Med (Maywood)       Date:  2021-04-29

3.  A Newborn with Multiple Fractures in Osteogenesis Imperfecta: A Case Report.

Authors:  Serkan Bayram; Lezgin Mert; Fikret Berkan Anarat; Mechmed Chodza; Ömer Naci Ergin
Journal:  J Orthop Case Rep       Date:  2018 May-Jun

Review 4.  Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Authors:  Simonetta Rosato; Sheila Unger; Belinda Campos-Xavier; Stefano Giuseppe Caraffi; Laura Beltrami; Marzia Pollazzon; Ivan Ivanovski; Marco Castori; Maria Paola Bonasoni; Giuseppina Comitini; Peter G J Nikkels; Kristin Lindstrom; Christine Umandap; Andrea Superti-Furga; Livia Garavelli
Journal:  Genes (Basel)       Date:  2022-01-28       Impact factor: 4.096

  4 in total

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