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  • 1
    Electronic Resource
    Electronic Resource
    Chromosom 8p-Syndrom: Herzfehler und psycho- motorische Retardierung als Leitsymptome Fallbericht (1997)
    Springer
    Monatsschrift Kinderheilkunde 145 (1997), S. 1054-1056 
    Details
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Kongenitales Vitium cordis ; Chromosom 8p-Syndrom ; Monosomie 8p ; Key words Congenital vitium cordis ; Chromosome 8p-syndrome ; Monosomy 8p
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary We describe an eighteen-months-old boy, who suffered from congenital vitium cordis, jejunalatresia, microcephaly, facial dysmorphies and psychomotor retardation in connection with a partial monosomy of the short arm of chromosome 8. Discussion: We want to discuss the characteristic features of the chromosome 8p-syndrome and emphazise the importance of chromosome analysis in patients with congenital heart malformation.
    Notes: Zusammenfassung Wir beschreiben einen 18 Monate alten Jungen mit kongenitalem Vitium cordis, Dünndarmatresie, Mikrozephalie, fazialen Dysmorphien und psychomotorischer Retardierung, bei dem eine partielle Monosomie des kurzen Arms von Chromosom 8 vorliegt. Diskussion: Anhand dieses Fallbeispiels soll das Chromosom 8p-Syndrom vorgestellt und auf die Wichtigkeit von konventionellen und molekularen zytogenetischen Analysen bei Patienten mit kongenitalen Herzfehlern hingewiesen werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001120050202
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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: 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
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    Paper (German National Licenses)
    Fulltext
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