A new syndrome with cerebro-oculo-skeletal-renal involvement

M. C. Silengo, M. Lerone, A. Pelizza, R. Gatti, A. Barabino, G. Romeo

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)612-614
Number of pages3
JournalPediatric Radiology
Volume20
Issue number8
DOIs
Publication statusPublished - Oct 1990

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging
  • Pediatrics, Perinatology, and Child Health

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