Skip to main content

01.12.2004 | Debate | Ausgabe 1/2004 Open Access

BMC Pediatrics 1/2004

Syndromes with congenital brittle bones

BMC Pediatrics > Ausgabe 1/2004
Horacio Plotkin
Wichtige Hinweise

Competing interests

None declared.



There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI).


A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2).


A debate about the definition of OI and a possible clinical and prognostic classification are warranted.
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2004

BMC Pediatrics 1/2004 Zur Ausgabe

Neu im Fachgebiet Pädiatrie

15.01.2021 | Kardiopulmonale Reanimation | Podcast | Onlineartikel

Erste Hilfe: Die Basics der Wiederbelebung

Im Gespräch mit Univ.-Prof. Dr. Bernd Böttiger, Experte für Notfallmedizin und Reanimation

14.01.2021 | ADHS | Nachrichten

ADHS: Wie die Mutter, so der Sohn

Mail Icon II Newsletter

Bestellen Sie unseren kostenlosen Newsletter Update Pädiatrie und bleiben Sie gut informiert – ganz bequem per eMail.