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Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course; a case report

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...

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Bibliographische Detailangaben
Hauptverfasser: Spranger, Stephanie (VerfasserIn) , Tariverdian, Gholamali (VerfasserIn) , Albert, Friedrich (VerfasserIn) , Sontheimer, Dieter (VerfasserIn) , Zöller, Joachim E. (VerfasserIn) , Weber, M. (VerfasserIn) , Tröger, Jochen (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 1996
In: European journal of pediatrics
Year: 1996, Jahrgang: 155, Heft: 9, Pages: 796-799
ISSN:1432-1076
DOI:10.1007/BF02002910
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/BF02002910
Volltext
Verfasserangaben:S. Spranger, G. Tariverdian, F.K. Albert, D. Sontheimer, J. Zöller, M. Weber, J. Tröger
Beschreibung
Zusammenfassung: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.
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Beschreibung:Online Resource
ISSN:1432-1076
DOI:10.1007/BF02002910

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