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  • Digitale Medien  (2)
  • Pierre Robin syndrome  (2)
  • Dwarfism  (1)
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  • Digitale Medien  (2)
Erscheinungszeitraum
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  • 1
    Digitale Medien
    Digitale Medien
    Kniest disease with Pierre Robin syndrome and hydrocephalus (1983)
    Springer
    Pediatric radiology 13 (1983), S. 106-109 
    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
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Pierre Robin syndrome with hyperphalangism-clinodactylysm of the index finger: A possible new palato-digital syndrome (1977)
    Springer
    Pediatric radiology 6 (1977), S. 178-180 
    Details
    ISSN: 1432-1998
    Schlagwort(e): Congenital malformations ; Pierre Robin syndrome ; Hyperphalangism ; Palatodigital syndrome
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract A nine day old boy who had the Pierre Robin syndrome also had an unusual associated hand malformation consisting of bilateral clinodactyly of the index finger. A supernumerary phalanx was inserted between the second metacarpal and the proximal phalanx of both index fingers with a radial deviation of the same phalanx. The same hand malformation has been previously described in three patients who had either the Pierre Robin syndrome or isolated cleft palate. On the basis of ours and the three previous cases, the existence of a new palato-digital syndrome is suggested.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00972113
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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    Artikel (Nationallizenzen)
    Volltext
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