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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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
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