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Conference Paper: Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl
| Title | Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl |
|---|---|
| Authors | |
| Issue Date | 2011 |
| Publisher | Medcom 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 (HKPNA), Hong Kong, 4-5 June 2011. In Hong Kong Journal of Paediatrics, 2011, v. 16 n. 3, p. 216 How to Cite? |
| Abstract | BACKGROUND: 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 ... |
| Description | Poster Presentation (Doctor’s Session) This journal issue contain Proceedings of the Congress |
| Persistent Identifier | http://hdl.handle.net/10722/134539 |
| ISSN | 2023 Impact Factor: 0.1 2023 SCImago Journal Rankings: 0.117 |
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Chung, BHY | en_US |
| dc.contributor.author | Lausch, E | - |
| dc.contributor.author | Superti-Furga, A | - |
| dc.date.accessioned | 2011-06-17T09:27:57Z | - |
| dc.date.available | 2011-06-17T09:27:57Z | - |
| dc.date.issued | 2011 | en_US |
| dc.identifier.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 (HKPNA), Hong Kong, 4-5 June 2011. In Hong Kong Journal of Paediatrics, 2011, v. 16 n. 3, p. 216 | en_US |
| dc.identifier.issn | 1013-9923 | - |
| dc.identifier.uri | http://hdl.handle.net/10722/134539 | - |
| dc.description | Poster Presentation (Doctor’s Session) | - |
| dc.description | This journal issue contain Proceedings of the Congress | - |
| dc.description.abstract | BACKGROUND: 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.language | eng | en_US |
| dc.publisher | Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp | - |
| dc.relation.ispartof | Hong Kong Journal of Paediatrics (New series) | en_US |
| dc.title | Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl | en_US |
| dc.type | Conference_Paper | en_US |
| dc.identifier.email | Chung, BHY: bhychung@hku.hk | en_US |
| dc.identifier.authority | Chung, BHY=rp00473 | en_US |
| dc.description.nature | postprint | - |
| dc.identifier.hkuros | 185914 | en_US |
| dc.identifier.hkuros | 189720 | - |
| dc.identifier.volume | 16 | - |
| dc.identifier.issue | 3 | - |
| dc.identifier.spage | 216 | - |
| dc.identifier.epage | 216 | - |
| dc.publisher.place | Hong Kong | - |
| dc.identifier.issnl | 1013-9923 | - |