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DOI: 10.1055/s-2000-3795
Letale Osteochondrodysplasien: pränatale und postnatale Differentialdiagnostik
Publication History
Publication Date:
31 December 2000 (online)
Zusammenfassung
Ziel: Letale Osteochondrodysplasien stellen eine heterogene Gruppe seltener genetischer Erkrankungen dar, die durch eine abnorme Ausreifung und ein gestörtes Wachstum von Knorpel und Knochen gekennzeichnet sind. Ihre Inzidenz liegt bei 1 - 3 auf 10 000 Geburten. Material und Methode: 5 pränatal diagnostizierte Fälle mit zweimalig thanatophorer Dysplasie, Achondrogenesis Typ II und zweimalig Fibrochondrogenesis werden vorgestellt. Anhand dieser Fälle sowie einer Literaturübersicht werden die häufigsten Erkrankungen diskutiert und die Differenzialdiagnostik anhand der pränatalen Ultraschallcharakteristika, der Morphologie, der Radiologie und Histopathologie besprochen. Ergebnisse: Mittels Ultraschall ist aufgrund des Kurzrippensyndroms zwischen der 19. und 22. Schwangerschaftswoche herum eine sichere Unterscheidung zwischen letalen und lebensfähigen Skelettdysplasien möglich. Das Kurzrippensyndrom führt konsekutiv zur Ausbildung einer Lungenhypoplasie. Die exakte Diagnose kann häufig jedoch erst postpartal durch radiologische und pathologische Untersuchungen gefunden werden. Da das Wiederholungsrisiko dieser heterogenen Gruppe je nach Diagnose zwischen < 1 % bis zu 50 % liegt, ist die Diagnosefindung zur Beratung der Eltern dringend erforderlich. Schlussfolgerung: Erstmalig wurden 2 Fälle von Fibrochondrogenesis in einer konsanguinen Familie beobachtet, wo in beiden Feten die Diagnose anhand von röntgenologischen und histopathologischen Untersuchungen postpartal gesichert wurde und dadurch der vermutete autosomal rezessive Erbgang bestätigt werden kann.
Lethal Osteochondrodysplasias: Praenatal and Postnatal Differential Diagnosis
Purpose: Lethal osteochondrodysplasias show an abnormal maturation and a disturbed growth of cartilage and bones. They represent a heterogenous group of rare genetic diseases. Their incidence is 1 to 3 in 10 000 births. Material and Methods: We report altogether 5 cases: two of thanatophoric dysplasia, one of achondrogenesis type II and two cases of the rare fibrochondrogenesis. The differential diagnosis in respect to ultrasonographic, morphologic, radiographic and histopathologic criteria of the most common of these diseases are discussed together with a review of the literature. Results: On the basis of the ultrasound finding of the short-rib-syndrome, it is possible to differentiate between viable and lethal osteochondrodysplasias at 19 to 22 weeks of gestation. The short-rin-syndrome leads to pulmonary hypoplasia. Conclusions: It is essential to obtain an exact diagnosis postnatally by radiographic and histopathological examinations to counsel the parents concerning the risk of recurrency. The risk in this heterogenous group of genetic diseases ranges between less than 1 % up to 50 % depending on the final diagnosis. Our two cases of fibrochondrogenesis in a consanguineous couple strongly suggest an autosomal recessive inheritance in this disease.
Schlüsselwörter:
Fibrochondrogenesis - Thanatophore Dysplasie - Achondrodysplasie - Achondrogenesis - Ultraschall
Key words:
Fibrochondrogenesis - Thanatophoric dysplasia - Achondrodysplasia - Achondrogenesis - Ultrasound
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