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Tricho-rhino-phalangeales Syndrom

Bericht über 4 Fälle in drei Generationen

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Monatsschrift Kinderheilkunde

Summary

The tricho-rhino-phalangeal syndrome is a rare anomaly characterized by typical cranio-facial dysmorphic signs and anomalies of hair and phalanges. Frequently associated are Perthes-like hip changes, low birth weight and short stature. Autosomal-dominant inheritance is prevalent.

Zusammenfassung

Das tricho-rhino-phalangeale Syndrom ist eine seltene Anomalie, die durch typische Veränderungen der Haare, der Phalangen und cranio-fa-cialen Dysmorphiezeichen charakterisiert ist. Assoziiert sind fakultativ — jedoch sehr häufig — Perthes-ähnliche Hüftveränderungen, niedriges Geburtsgewicht und Minderwuchs. Autosomal-dominanter Erbgang 1st prävalent.

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© 1980 Springer-Verlag Berlin Heidelberg

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Ranke, M.B., Heitkamp, HC. (1980). Tricho-rhino-phalangeales Syndrom. In: Bachmann, K.D., et al. Monatsschrift Kinderheilkunde. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-38563-0_49

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  • DOI: https://doi.org/10.1007/978-3-662-38563-0_49

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-37745-1

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