Zobrazeno 1 - 10
of 93
pro vyhledávání: '"E. M. Brett"'
Publikováno v:
Developmental Medicine & Child Neurology. 25:32-42
Three children, two siblings and one unrelated child, with congenital muscular dystrophy with central nervous system (CNS) involvement are discussed. The siblings appeared to suffer from a relatively mild myopathy with progressive brain disease, of w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cc08e88c695ad39b0c45f04cfe0cf6c
https://doi.org/10.1111/j.1469-8749.1983.tb13719.x
https://doi.org/10.1111/j.1469-8749.1983.tb13719.x
Publikováno v:
Journal of Intellectual Disability Research. 23:231-242
A new case of the Borjeson-Forssman-Lehmann syndrome is described with details of anthropometry, dermatoglyphs, endocrine function studies and mental state. Comparisons are made with the five previously reported cases. The diagnosis is based on the c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d933f0501cde6e42a72a90029feda0e5
https://doi.org/10.1111/j.1365-2788.1979.tb00858.x
https://doi.org/10.1111/j.1365-2788.1979.tb00858.x
Publikováno v:
Clinical Genetics. 24:257-265
Three families with Greig cephalopolysyndactyly are reported, the relationship with pre-axial polydactyly type IV and the acrocallosal syndrome is discussed.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::467542a0ab4c73b37edcbd494ca5665b
https://doi.org/10.1111/j.1399-0004.1983.tb00080.x
https://doi.org/10.1111/j.1399-0004.1983.tb00080.x
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 56:1129-1132
A 21 month old girl presented with a short history of frequent falls and a right sided foot drop. She went on to suffer recurrent episodes of distal weakness in her arms and legs with hyporeflexia. Electrophysiological studies were consistent with in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4dcc93aa4f0a1b869b6007c4f2ff6abe
https://doi.org/10.1136/jnnp.56.10.1129
https://doi.org/10.1136/jnnp.56.10.1129
Publikováno v:
Neuropediatrics. 23:53-56
Autosomal recessive microcephaly has long been recognized in association with normal early motor development and mild to severe mental retardation. We report three sibling pairs with microcephaly and severe neurological impairment. These cases and ot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fabf482820bad7e8c2aa6dee68e8b0c
https://doi.org/10.1055/s-2008-1071313
https://doi.org/10.1055/s-2008-1071313
Publikováno v:
Neuropediatrics. 22:71-78
The clinical features and investigation results of 7 patients with Pelizaeus-Merzbacher disease (PMD) are described; one patient had a brain biopsy and two patients had an autopsy. This paper tries to differentiate the clinical features of the connat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af5de2233cd2beed078a7850f0a425a1
https://doi.org/10.1055/s-2008-1071420
https://doi.org/10.1055/s-2008-1071420
Publikováno v:
Neuropediatrics. 21:164-168
A progressive neurological condition characterised by megalencephaly, spasticity, ataxia and seizures in two siblings of consanguineous parents is described. The electroencephalogram showed posterior discharges and an unusual photoparoxysmal response
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53f3cee131e09b4365cada920650e8a8
https://doi.org/10.1055/s-2008-1071487
https://doi.org/10.1055/s-2008-1071487
Autor:
E M Brett
Publikováno v:
BMJ. 300:1604-1606
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::73d9658983c574b2862767cec456d548
https://doi.org/10.1136/bmj.300.6740.1604
https://doi.org/10.1136/bmj.300.6740.1604
Publikováno v:
Clinical genetics. 43(6)
Nicolaides P, Baraitser M, Brett EM. Two siblings with mental retardation and progressive spasticity. Clin Genet 1993: 43: 312–314. © Munksgaard, 1993 We describe two siblings with a progressive form of spastic paraplegia, seizures and non-progres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb6338fabd537d88cd14fdb99c32c1d5
https://pubmed.ncbi.nlm.nih.gov/7606842
https://pubmed.ncbi.nlm.nih.gov/7606842
Publikováno v:
Brain : a journal of neurology. 115
Fazio-Londe disease is a label sometimes applied to a degenerative disease of the motor neurons characterized by progressive bulbar paralysis in children. It is very rare with only 22 case reports describing 24 children including four sibling pairs.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f22e1b675d570eb51f800b393e91c82
https://pubmed.ncbi.nlm.nih.gov/1486466
https://pubmed.ncbi.nlm.nih.gov/1486466