Abstract
We report a patient with a syndrome of distinctive facial, ocular, CNS, skeletal, and renal abnormalities. His past history was remarkable for congenital cataracts, marked developmental delay, and moderately severe scoliosis. A convulsive disorder was recognized at 18 years of age. Numerous fractures with poor healing began occurring at age 23. He subsequently developed evidence of progressive kidney disease leading to death from renal failure at age 32. Dysmorphic features when seen shortly before his demise included a fleshy face, a bulbous, upturned nose, large tongue, short neck, severe scoliosis, short limbs with small hands and feet, short, broad digits, and clinodactyly. Renal pathology revealed a tubulointerstitial nephritis similar to that seen in Jeune's asphyxiating thoracic dysplasia, Alstrom's syndrome or nail-patella syndrome, as well as a prominent mesangial proliferative glomerulonephritis but clinical features were not consistent with any of these disorders. Other autopsy abnormalities included neuromigrational brain defects and diffuse markedly softened bones with multiple foci of apparent healing. An older brother was reported to have had the same phenotype, but died at age 13 years without an autopsy. An otherwise negative family history suggests either autosomal recessive or X-linked inheritance. We suggest that this may be a distinctive and previously unrecognized disorder.
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Ardinger, H., Bonsib, S. & Hanson, J. A NEW DYSMORPHIC SYNDROME WITH CNS, RENAL AND SKELETAL ABNORMALITIES. Pediatr Res 18 (Suppl 4), 303 (1984). https://doi.org/10.1203/00006450-198404001-01261
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DOI: https://doi.org/10.1203/00006450-198404001-01261