ZIB

Hits per page

hit 1 - 1 | 1 hit

Select All Export

Electronic Resource

Kniest disease with Pierre Robin syndrome and hydrocephalus (1983)

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

Springer

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

add to mindlist on the mindlist

Details

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

Library	Location	Call Number	Volume/Issue/Year	Availability

Others were also interested in ...

Paper (German National Licenses)

Fulltext

hit 1 - 1 | 1 hit