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Pediatric Radiology

, Volume 20, Issue 8, pp 612–614 | Cite as

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

  • M. C. Silengo
  • M. Lerone
  • A. Pelizza
  • R. Gatti
  • A. Barabino
  • G. Romeo
Short Reports

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.

Keywords

Differential Diagnosis Natural History Renal Disease Renal Insufficiency Early Death 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. 1.
    Mainzer F, Saldino R, Ozonoff MB, Minagi H (1970) Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49: 556Google Scholar
  2. 2.
    Diekmann L, Louis C, Schulte-Kenna (1977) Familiale nephropathie mit retinitis pigmentosa und periphere dysostose. Helv Paediatr Acta 82:375Google Scholar
  3. 3.
    Cirillo Silengo M, Lopez Bell G, Biagioli M, Guala A, Porcellini G, Franceschini P (1987) A new syndrome with ocular, skeletal and renal involvement. Pediatr Radiol 17:238Google Scholar
  4. 4.
    Opitz JM, Lowry RS, Holmes TM, Morgan K (1985) Hutterite cerebro-osteo-nephrodysplasia: autosomal recessive trait in a Lehrerlut Hutterite family from Montana. Am J Med Genet 22:521Google Scholar
  5. 5.
    Taybi H, Linder D (1967) Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89:275Google Scholar
  6. 6.
    Majewski F, Stoeckenius M, Kemperdich H (1982) Studies of microcephalic primordial dwarfism III. An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles. Osteodysplastic primordial dwarfism type III. Am J Med Genet 12:37Google Scholar
  7. 7.
    Lavollay B, Faure C, Filipe G, Branca G, Huet De Barochez Y (1984) Nanisme familial congenital avec dysplasie cephalosquelettique. (Syndrome de Taybi-Linder) Arch Fr Pediatr 41:57Google Scholar

Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • M. C. Silengo
    • 1
  • M. Lerone
    • 1
  • A. Pelizza
    • 2
  • R. Gatti
    • 3
  • A. Barabino
    • 3
  • G. Romeo
    • 1
  1. 1.Ambulatorio di Genetica MedicaIstituto G. GasliniGenovaItaly
  2. 2.Servizio di RadiologiaIstituto G. GasliniGenovaItaly
  3. 3.III Divisione di PediatriaIstituto G. GasliniGenovaItaly

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