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...

Ausführliche Beschreibung

Gespeichert in:
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

MARC

LEADER 00000caa a2200000 c 4500
001 1856798763
003 DE-627
005 20240311154058.0
007 cr uuu---uuuuu
008 230821s1996 xx |||||o 00| ||eng c
024 7 |a 10.1007/BF02002910  |2 doi 
035 |a (DE-627)1856798763 
035 |a (DE-599)KXP1856798763 
035 |a (OCoLC)1425892192 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Spranger, Stephanie  |e VerfasserIn  |0 (DE-588)115728566X  |0 (DE-627)1021070300  |0 (DE-576)502812176  |4 aut 
245 1 0 |a Microcephalic osteodysplastic primordial dwarfism type II  |b a child with unusual symptoms and clinical course; a case report  |c S. Spranger, G. Tariverdian, F.K. Albert, D. Sontheimer, J. Zöller, M. Weber, J. Tröger 
264 1 |c 1996 
300 |a 4 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Gesehen am 21.08.2023 
520 |a 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. 
650 4 |a Bird-headed dwarfism 
650 4 |a Craniosynostosis 
650 4 |a Microcephalic osteodysplastic primordial dwarfism 
650 4 |a Osteodysplastic primordial dwarfism 
650 4 |a Seckel syndrome 
700 1 |a Tariverdian, Gholamali  |d 1940-  |e VerfasserIn  |0 (DE-588)120763702  |0 (DE-627)080874673  |0 (DE-576)168241919  |4 aut 
700 1 |a Albert, Friedrich  |e VerfasserIn  |0 (DE-588)1074554728  |0 (DE-627)832289620  |0 (DE-576)442742622  |4 aut 
700 1 |a Sontheimer, Dieter  |d 1952-  |e VerfasserIn  |0 (DE-588)129977430X  |0 (DE-627)1856797635  |4 aut 
700 1 |a Zöller, Joachim E.  |d 1953-  |e VerfasserIn  |0 (DE-588)124408885  |0 (DE-627)363326766  |0 (DE-576)294158448  |4 aut 
700 1 |a Weber, M.  |e VerfasserIn  |4 aut 
700 1 |a Tröger, Jochen  |d 1940-  |e VerfasserIn  |0 (DE-588)1027041515  |0 (DE-627)728179199  |0 (DE-576)372429459  |4 aut 
773 0 8 |i Enthalten in  |t European journal of pediatrics  |d Berlin : Springer Science & Business Media B.V., 1975  |g 155(1996), 9, Seite 796-799  |h Online-Ressource  |w (DE-627)684135361  |w (DE-600)2647723-3  |w (DE-576)367395959  |x 1432-1076  |7 nnas  |a Microcephalic osteodysplastic primordial dwarfism type II a child with unusual symptoms and clinical course; a case report 
773 1 8 |g volume:155  |g year:1996  |g number:9  |g pages:796-799  |g extent:4  |a Microcephalic osteodysplastic primordial dwarfism type II a child with unusual symptoms and clinical course; a case report 
856 4 0 |u https://doi.org/10.1007/BF02002910  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
951 |a AR 
992 |a 20230821 
993 |a Article 
994 |a 1996 
998 |g 1027041515  |a Tröger, Jochen  |m 1027041515:Tröger, Jochen  |d 910000  |d 910500  |e 910000PT1027041515  |e 910500PT1027041515  |k 0/910000/  |k 1/910000/910500/  |p 7  |y j 
998 |g 124408885  |a Zöller, Joachim E.  |m 124408885:Zöller, Joachim E.  |d 910000  |d 910800  |e 910000PZ124408885  |e 910800PZ124408885  |k 0/910000/  |k 1/910000/910800/  |p 5 
998 |g 129977430X  |a Sontheimer, Dieter  |m 129977430X:Sontheimer, Dieter  |d 910000  |d 910500  |e 910000PS129977430X  |e 910500PS129977430X  |k 0/910000/  |k 1/910000/910500/  |p 4 
998 |g 1074554728  |a Albert, Friedrich  |m 1074554728:Albert, Friedrich  |d 910000  |d 911200  |e 910000PA1074554728  |e 911200PA1074554728  |k 0/910000/  |k 1/910000/911200/  |p 3 
998 |g 120763702  |a Tariverdian, Gholamali  |m 120763702:Tariverdian, Gholamali  |d 910000  |d 911500  |e 910000PT120763702  |e 911500PT120763702  |k 0/910000/  |k 1/910000/911500/  |p 2 
998 |g 115728566X  |a Spranger, Stephanie  |m 115728566X:Spranger, Stephanie  |d 910000  |d 911500  |e 910000PS115728566X  |e 911500PS115728566X  |k 0/910000/  |k 1/910000/911500/  |p 1  |x j 
999 |a KXP-PPN1856798763  |e 4368400119 
BIB |a Y 
SER |a journal 
JSO |a {"note":["Gesehen am 21.08.2023"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"recId":"1856798763","language":["eng"],"title":[{"title_sort":"Microcephalic osteodysplastic primordial dwarfism type II","subtitle":"a child with unusual symptoms and clinical course; a case report","title":"Microcephalic osteodysplastic primordial dwarfism type II"}],"person":[{"family":"Spranger","given":"Stephanie","display":"Spranger, Stephanie","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","display":"Tariverdian, Gholamali","roleDisplay":"VerfasserIn","given":"Gholamali","family":"Tariverdian"},{"given":"Friedrich","family":"Albert","role":"aut","roleDisplay":"VerfasserIn","display":"Albert, Friedrich"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Sontheimer, Dieter","given":"Dieter","family":"Sontheimer"},{"display":"Zöller, Joachim E.","roleDisplay":"VerfasserIn","role":"aut","family":"Zöller","given":"Joachim E."},{"given":"M.","family":"Weber","role":"aut","roleDisplay":"VerfasserIn","display":"Weber, M."},{"family":"Tröger","given":"Jochen","display":"Tröger, Jochen","roleDisplay":"VerfasserIn","role":"aut"}],"physDesc":[{"extent":"4 S."}],"relHost":[{"recId":"684135361","language":["ger","eng"],"corporate":[{"role":"isb","roleDisplay":"Herausgebendes Organ","display":"Belgian Association of Pediatric Anesthesiologists"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Microcephalic osteodysplastic primordial dwarfism type II a child with unusual symptoms and clinical course; a case reportEuropean journal of pediatrics","note":["Fortsetzung der Druck-Ausgabe","Gesehen am 29.05.12","Ungezählte Beil.: Supplement"],"part":{"extent":"4","volume":"155","text":"155(1996), 9, Seite 796-799","pages":"796-799","issue":"9","year":"1996"},"titleAlt":[{"title":"Zeitschrift für Kinderheilkunde"}],"pubHistory":["121.1975/76 -"],"title":[{"title_sort":"European journal of pediatrics","subtitle":"official organ of the Belgian Pediatric Association","title":"European journal of pediatrics"}],"physDesc":[{"extent":"Online-Ressource"}],"id":{"issn":["1432-1076"],"eki":["684135361"],"zdb":["2647723-3"]},"origin":[{"publisherPlace":"Berlin ; Dordrecht","dateIssuedKey":"1975","publisher":"Springer Science & Business Media B.V.","dateIssuedDisp":"1975-"}]}],"origin":[{"dateIssuedDisp":"1996","dateIssuedKey":"1996"}],"id":{"doi":["10.1007/BF02002910"],"eki":["1856798763"]},"name":{"displayForm":["S. Spranger, G. Tariverdian, F.K. Albert, D. Sontheimer, J. Zöller, M. Weber, J. Tröger"]}} 
SRT |a SPRANGERSTMICROCEPHA1996