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.
References
Mainzer F, Saldino R, Ozonoff MB, Minagi H (1970) Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities. Am J Med 49: 556
Diekmann L, Louis C, Schulte-Kenna (1977) Familiale nephropathie mit retinitis pigmentosa und periphere dysostose. Helv Paediatr Acta 82:375
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 17:238
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 22:521
Taybi H, Linder D (1967) Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89:275
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 12:37
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 41:57
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Silengo, M.C., Lerone, M., Pelizza, A. et al. A new syndrome with cerebro-oculo-skeletal-renal involvement. Pediatr Radiol 20, 612–614 (1990). https://doi.org/10.1007/BF02129073
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DOI: https://doi.org/10.1007/BF02129073