Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata

Brachytelephalangic chondrodysplasia punctata (CDPX1) is characterized by brachytelephalangy and nasomaxillary hypoplasia, in addition to stippled epiphyses. Some reports have described infants with CDPX1 who exhibited cervical spinal stenosis. However, the natural course of cervical spinal lesions...

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Main Authors: Yoh Fujimoto, Yuki Taniguchi, Yasushi Oshima, Yoshitaka Matsubayashi, Keita Okada, Nobuhiko Haga, Sakae Tanaka
Format: Article
Language:English
Published: Wiley 2019-01-01
Series:Case Reports in Orthopedics
Online Access:http://dx.doi.org/10.1155/2019/5974281
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author Yoh Fujimoto
Yuki Taniguchi
Yasushi Oshima
Yoshitaka Matsubayashi
Keita Okada
Nobuhiko Haga
Sakae Tanaka
author_facet Yoh Fujimoto
Yuki Taniguchi
Yasushi Oshima
Yoshitaka Matsubayashi
Keita Okada
Nobuhiko Haga
Sakae Tanaka
author_sort Yoh Fujimoto
collection DOAJ
description Brachytelephalangic chondrodysplasia punctata (CDPX1) is characterized by brachytelephalangy and nasomaxillary hypoplasia, in addition to stippled epiphyses. Some reports have described infants with CDPX1 who exhibited cervical spinal stenosis. However, the natural course of cervical spinal lesions in this condition has not been elucidated. Here, we report a very rare adolescent case of CDPX1, which demonstrated progressive myelopathy caused by atlantoaxial subluxation and a subsequent retroodontoid pseudotumor, successfully treated with surgery. Our case highlights a new clinically important fact that upper cervical spinal lesions in CDPX1 can deteriorate even after childhood and thus need close monitoring.
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institution Kabale University
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language English
publishDate 2019-01-01
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series Case Reports in Orthopedics
spelling doaj-art-f0e3422c247b484b95982cc606a07c112025-02-03T07:23:48ZengWileyCase Reports in Orthopedics2090-67492090-67572019-01-01201910.1155/2019/59742815974281Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia PunctataYoh Fujimoto0Yuki Taniguchi1Yasushi Oshima2Yoshitaka Matsubayashi3Keita Okada4Nobuhiko Haga5Sakae Tanaka6Department of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, JapanDepartment of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, JapanDepartment of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, JapanDepartment of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, JapanDepartment of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, JapanDepartment of Rehabilitation Medicine, The University of Tokyo Hospital, Tokyo, JapanDepartment of Orthopedic Surgery, The University of Tokyo Hospital, Tokyo, JapanBrachytelephalangic chondrodysplasia punctata (CDPX1) is characterized by brachytelephalangy and nasomaxillary hypoplasia, in addition to stippled epiphyses. Some reports have described infants with CDPX1 who exhibited cervical spinal stenosis. However, the natural course of cervical spinal lesions in this condition has not been elucidated. Here, we report a very rare adolescent case of CDPX1, which demonstrated progressive myelopathy caused by atlantoaxial subluxation and a subsequent retroodontoid pseudotumor, successfully treated with surgery. Our case highlights a new clinically important fact that upper cervical spinal lesions in CDPX1 can deteriorate even after childhood and thus need close monitoring.http://dx.doi.org/10.1155/2019/5974281
spellingShingle Yoh Fujimoto
Yuki Taniguchi
Yasushi Oshima
Yoshitaka Matsubayashi
Keita Okada
Nobuhiko Haga
Sakae Tanaka
Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
Case Reports in Orthopedics
title Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
title_full Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
title_fullStr Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
title_full_unstemmed Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
title_short Successful Treatment of Atlantoaxial Subluxation in an Adolescent Patient with BrachytelephalangicChondrodysplasia Punctata
title_sort successful treatment of atlantoaxial subluxation in an adolescent patient with brachytelephalangicchondrodysplasia punctata
url http://dx.doi.org/10.1155/2019/5974281
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