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  • 标题:Pyknodysostosis: report of a rare case with review of literature
  • 本地全文:下载
  • 作者:Ramaiah, Kiran Kumar Kotagudda ; George, Giju Baby ; Padiyath, Sheeba
  • 期刊名称:Imaging Science in Dentistry
  • 印刷版ISSN:2233-7822
  • 出版年度:2011
  • 卷号:41
  • 期号:4
  • 页码:177-181
  • DOI:10.5624/isd.2011.41.4.177
  • 语种:English
  • 出版社:Korean Academy of Oral and Maxillofacial Radiology
  • 摘要:

    Pyknodysostosis is a rare autosomal recessive disorder characterized by the post natal onset of short limbs, short stature, and generalized hyperostosis along with acro-osteolysis with sclerosis of the terminal phalanges, a feature that is considered essentially pathognomonic. Other features include persistence of fontanelles, delayed closure of sutures, wormian bones, absence of frontal sinuses, and obtuse mandibular gonial angle with relative mandibular prognathism. We report a case of 17-year-old girl who presented with a chief complaint of retention of deciduous teeth. General physical examination demonstrated short stature, frontal and parietal bossing, depressed nasal bridge, beaked nose, hypoplastic midface, wrinkled skin over the finger tips, and nail abnormalities. Radiographs showed multiple impacted permanent and supernumerary teeth, hypoplastic paranasal sinuses with acro-osteolysis of terminal phalanges, and open fontanelles, and sutures along with wormian bones in the lambdoidal region.

  • 关键词:Pyknodysostosis; Craniofacial abnormalities; dysostoses; Acro-Osteolysis
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