Publicação
Genes, crianças e pediatras: Doença de Menkes
| dc.contributor.author | Correia, J. | |
| dc.contributor.author | Rios, M. | |
| dc.contributor.author | Ferreira, P. | |
| dc.contributor.author | Martins, E. | |
| dc.contributor.author | Bandeira, A. | |
| dc.date.accessioned | 2014-02-19T16:20:55Z | |
| dc.date.available | 2014-02-19T16:20:55Z | |
| dc.date.issued | 2013-09 | |
| dc.description.abstract | A male newborn, presenting hipotonia and posterior parietal bossing, developed, in the first 12 hours of life, refusal to feed and hypoglycaemia. A cranial ultrasound, skull X-ray and CT scan revealed an occipital and parietal fracture with an underlying haematoma and extensive extracranial soft-tissue swelling. He was submitted to surgical drainage. After 24 hours: new intracerebral bleeding. At the age of two-months he presented abnormal skin and sparse kinky hair. Serum copper and caeruloplasmin levels were below the normal range. Molecular diagnosis of Menkes disease was made by the identification of a new mutation in ATP7A gene. | por |
| dc.identifier.citation | Nascer e Crescer 2013; 22(3): 191-192 | por |
| dc.identifier.issn | 0872-0754 | |
| dc.identifier.uri | http://hdl.handle.net/10400.16/1574 | |
| dc.language.iso | por | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Nascer e Crescer | por |
| dc.subject | Congenital fractures | por |
| dc.subject | intracerebral bleeding | por |
| dc.subject | sparse kinky hair | por |
| dc.title | Genes, crianças e pediatras: Doença de Menkes | por |
| dc.title.alternative | Genes, children and paediatricians: Menkes disease | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto, Portugal | por |
| oaire.citation.endPage | 192 | por |
| oaire.citation.startPage | 191 | por |
| oaire.citation.title | Nascer e Crescer | por |
| oaire.citation.volume | 22(3) | por |
| rcaap.rights | openAccess | por |
| rcaap.type | article | por |