Zusammenfassung
Bei einem 4-jährigen Mädchen konnte die Diagnose Osteogenesis imperfecta Typ I anhand
folgender klinischer Merkmale gestellt werden: 4 Frakturen jeweils nach Bagatelltraumata,
intensiv blaue Skleren beidseits, Zahnschmelzanomalien, Makrozephalie mit vorgewölbter
Stirn. Die Diagnose wurde molekulargenetisch bestätigt. Dabei fand sich eine heterozygote
Punkt-mutation Arg420Stop im COL1A1-Gen, welche in der Literatur bisher nicht beschrieben
ist.
Abstract
In a 4 year old girl the diagnosis osteogenesis imperfecta type I was suspected by
following clinical criteria: four fractures after small trauma, intensive blue sclera,
anomalies of dental enamel, macrocephalie with frontal bassing. Clinical diagnosis
could be verified by moleculargenetic analysis, a newly recognized heterozygous point
mutation (Arg420Stop) in the COL1A1-gene was found.
Schlüsselwörter
Osteogenesis imperfecta - COL1A1-Gen - Knochenfragilität
Key words
Osteogenesis imperfecta - COL1A1-gene - bone fragility
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PD Dr. med. Heinrich Schmidt
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Email: Heinrich.Schmidt@kk-i.med.uni-muenchen.de
