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Conference Paper: Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl

TitleInfantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl
Authors
Issue Date2011
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
The 2011 Joint Scientific Meeting of the Hong Kong Paediatric Society and American Academy of Pediatrics in conjunction with Hong Kong Paediatric Nurses Association, Hong Kong, 4-5 June 2011. In Hong Kong Journal of Paediatrics, 2011, v. 16 n. 3, p. 216 How to Cite?
AbstractBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, perianal masses are common but late findings. We report a female infant with ISH and subsequently confirmed to have known pathogenic mutations in the ANTXR2 ...
DescriptionPoster Presentation (Doctor’s Session)
This journal issue contain Proceedings of the Congress
Persistent Identifierhttp://hdl.handle.net/10722/134539
ISSN
2015 Impact Factor: 0.194
2015 SCImago Journal Rankings: 0.123

 

DC FieldValueLanguage
dc.contributor.authorChung, BHYen_US
dc.contributor.authorLausch, E-
dc.contributor.authorSuperti-Furga, A-
dc.date.accessioned2011-06-17T09:27:57Z-
dc.date.available2011-06-17T09:27:57Z-
dc.date.issued2011en_US
dc.identifier.citationThe 2011 Joint Scientific Meeting of the Hong Kong Paediatric Society and American Academy of Pediatrics in conjunction with Hong Kong Paediatric Nurses Association, Hong Kong, 4-5 June 2011. In Hong Kong Journal of Paediatrics, 2011, v. 16 n. 3, p. 216en_US
dc.identifier.issn1013-9923-
dc.identifier.urihttp://hdl.handle.net/10722/134539-
dc.descriptionPoster Presentation (Doctor’s Session)-
dc.descriptionThis journal issue contain Proceedings of the Congress-
dc.description.abstractBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, perianal masses are common but late findings. We report a female infant with ISH and subsequently confirmed to have known pathogenic mutations in the ANTXR2 ...-
dc.languageengen_US
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp-
dc.relation.ispartofHong Kong Journal of Paediatrics (New series)en_US
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleInfantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girlen_US
dc.typeConference_Paperen_US
dc.identifier.emailChung, BHY: bhychung@hku.hken_US
dc.identifier.authorityChung, BHY=rp00473en_US
dc.description.naturepostprint-
dc.identifier.hkuros185914en_US
dc.identifier.hkuros189720-
dc.identifier.volume16-
dc.identifier.issue3-
dc.identifier.spage216-
dc.identifier.epage216-
dc.publisher.placeHong Kong-

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