Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters


Autoria(s): Richieri-Costa, A.; Frota-Pessoa, O.
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

26/05/2014

26/05/2014

01/01/1979

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