SQUMJ-Sultan Qaboos University Medical Journal. 2009; 9 (2): 157-161
em Inglês
| IMEMR
| ID: emr-102090
ABSTRACT
Incontinentia Pigmenti [IP], [OMIM # 308300], is a rare X-linked dominant condition. It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system. It is usually lethal in males; the disease has variable expression in an affected female. We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented/hyperpigmented skin lesions. She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Transtornos da Pigmentação
/
Convulsões
/
Dermatopatias
/
Espasmos Infantis
/
Criança
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Manifestações Neurológicas
Tipo de estudo:
Relato de Casos
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Sultan Qaboos Univ. Med. J.
Ano de publicação:
2009
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