ISSN:
1432-1998
Keywords:
Kniest diesease
;
Chondrodysplasia
;
Dwarfism
;
Pierre Robin syndrome
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF02390113
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