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Digitale Medien

Kniest disease with Pierre Robin syndrome and hydrocephalus (1983)

Cirillo Silengo, M. ; Davi, G. F. ; Bianco, R. ; [weitere]

Springer

Pediatric radiology 13 (1983), S. 106-109

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Details

ISSN: 1432-1998

Schlagwort(e): Kniest diesease ; Chondrodysplasia ; Dwarfism ; Pierre Robin syndrome

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: Abstract A 3-month-old male infant with clinical and radiological features of Kniest disease is reported. Additional findings were severe Pierre Robin syndrome and external hydrocephalus. The patient was retarded in mental and motor development. He died at 4 months of age from the complications of tracheostomy. The parents were both normal clinically and radiologically, thus the disease in the child was presumably due to a new mutation. The reported familial cases of Kniest disease suggest autosomal dominant inheritance. The differential diagnosis is discussed in detail.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF02390113

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