A new syndrome with cerebro-oculo-skeletal-renal involvement.
Pediatr Radiol
; 20(8): 612-4, 1990.
Article
em En
| MEDLINE
| ID: mdl-2251013
ABSTRACT
We report on an infant male who presented with microcephaly of prenatal onset, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy, abnormal eye movements and nystagmus. In addition, he had a skeletal dysplasia with predominant acromelic involvement and a renal disease characterized by both nephritic and nephrotic changes. The natural history of his condition included severe postnatal failure to thrive, lack of development of psychomotor milestones, intractable seizures, terminal renal insufficiency with early death. Such spectrum of phenotypic abnormalities has never been reported before and we suggest that it may represent a new syndromic entity. The differential diagnosis with the oculo-skeletal-renal syndromes, with the osteodysplastic primordial dwarfism of the Taybi-Linder type and with the Hutterite cerebro-osteo-nephrodysplasia, is discussed.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Osso e Ossos
/
Síndrome Oculocerebrorrenal
Tipo de estudo:
Diagnostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Pediatr Radiol
Ano de publicação:
1990
Tipo de documento:
Article
País de afiliação:
Itália