Mowat-Wilson-Syndrom
Mikrozephalie, mentale Retardierung, und unterschiedliche Gesichtsveränderungen, mit und ohne Morbus Hirschsprung ist eine autosomal rezessive Erkrankung, die durch Mutationen im ZEB2-Gen hervorgerufen wird. Neben den Genannten finden sich gelegentlich auch urogenitale Fehlbildungen.
Gliederung
Referenzen:
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| 21. |
Wilson M et. al. (2003) Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B. [^] |
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Horn D et. al. (2004) Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. [^] |
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Strenge S et. al. (2007) Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. [^] |
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Engenheiro E et. al. (2008) Mowat-Wilson syndrome: an underdiagnosed syndrome? [^] |
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