Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters
Contribuinte(s) |
Universidade Estadual Paulista (UNESP) |
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Data(s) |
26/05/2014
26/05/2014
01/01/1979
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Resumo |
Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here. |
Formato |
293-297 |
Identificador |
http://dx.doi.org/10.1159/000153060 Human Heredity, v. 29, n. 5, p. 293-297, 1979. 0001-5652 http://hdl.handle.net/11449/63444 10.1159/000153060 WOS:A1979HN46900007 2-s2.0-0018291955 |
Idioma(s) |
eng |
Publicador |
Karger |
Relação |
Human Heredity |
Direitos |
closedAccess |
Palavras-Chave | #atrichia #case report #central nervous system #congenital disorder #electroencephalography #epilepsy #heredity #inheritance #mental deficiency #school child #seizure #sibling #skin disease #child #congenital malformation #congenital skin disease #female #genetics #hair #human #multiple malformation syndrome #syndrome #Abnormalities, Multiple #Case Report #Child #Electroencephalography #Epilepsy #Female #Hair #Human #Mental Retardation #Skin Abnormalities #Syndrome |
Tipo |
info:eu-repo/semantics/article |