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  • 1
    Electronic Resource
    Electronic Resource
    EEG development in early treated PKU patients from birth to 6 years of age (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 28-33 
    Details
    ISSN: 1432-1076
    Keywords: EEG ; Phenylketonuria ; Dietary treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 126 early treated PKU patients (type I and type II) a close EEG follow up was performed from birth up to 6 years of age. A total of 1465 EEGs were performed before and after onset of dietary treatment and on 11 more subsequent occasions. The composition of the background activity was normal up to 6 years when only a small number of the children (19) showed no dominant alpha activity. The frequency of epileptiform activity of generalised as well as focal type was low in the first 2 years of life, but afterwards slightly enhanced in comparison to normal control groups. Other findings like generalised theta paroxysms or focal slow waves were rarely observed. Under a standardised protein load at 6 months (52 patients) and at 5 years of age (42 patients) a moderate generalised slowing of the background activity but no other abnormalities were noted.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02126296
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Case report (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 796-799 
    Details
    ISSN: 1432-1076
    Keywords: Key words Bird-headed dwarfism ; Craniosynostosis ; Microcephalic ; osteodysplastic primordial dwarfism ; Osteodysplastic primordial ; dwarfism ; Seckel syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After fronto-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. Conclusion MOPD type II may have a wider range of expression than previously delineated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02002910
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
  • 3
    Electronic Resource
    Electronic Resource
    Case report (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 796-799 
    Details
    ISSN: 1432-1076
    Keywords: Bird-headed dwarfism ; Craniosynostosis ; Microcephalic osteodysplastic primordial dwarfism ; Osteodysplastic primordial dwarfism ; Seckel syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Abstract We report on a 13-month old boy with microcephalic osteodysplastic primordial dwarfism (MOPD), whose radiographic signs correspond with type II of this entity. Some of his clinical signs, such as the anomalies of the external genitalia and the urinary tract, are common to this subgroup of MOPD, but he also shows unusual clinical signs including bilateral knee dislocation and hypoplasia of the anterior corpus callosum. His clinical course was unusual with several episodes of breathing difficulties and increased intracranial pressure secondary to craniosynostosis at the age of 16 months. After fronto-orbital advancement for the treatment of brachycephaly, his psychomotor development improved remarkably. Conclusion MOPD type II may have a wider range of expression than previously delineated.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02002910
    Library Location Call Number Volume/Issue/Year Availability
    BibTip Others were also interested in ...
    Paper (German National Licenses)
    Fulltext
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