Bartsocas-Papas-Syndrom

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Krankheitsbeschreibung

Bartsocas-Papas syndrome (lethal popliteal pterygium syndrome) is an autosomal recessive disorder characterized by multiple popliteal pterygia, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and syndactyly. Early lethality is common, although survival into childhood and beyond has been reported.
Quelle: OMIM

Orofaziale Manifestation

Lippen-Kiefer-Gaumenspalten

Literatur

  • Mitchell, K., O'Sullivan, J., Missero, C., Blair, E., Richardson, R., Anderson, B., Antonini, D., Murray, J. C., Shanske, A. L., Schutte, B. C., Romano, R.-A., Sinha, S., Bhaskar, S. S., Black, G. C. M., Dixon, J., Dixon, M. J.Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.Am. J. Hum. Genet. 90: 69-75, 2012. PMID 22197488
  • PMID 12575021
  • PMID 23610050

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