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Disease relevance of Microstomia


High impact information on Microstomia

  • Of interest is a previously described family with autosomal dominant inheritance of U-shaped cleft palate, microstomia, micrognathia and oligodontia where all affected members were shown to have the fragile site at 16q22 in a proportion of their cells [Bettex et al. (1998) Eur J Pediatr Surg 8:4-8] [1].


  1. Dominant inheritance of cleft palate, microstomia and micrognathia--possible linkage to the fragile site at 16q22 (FRA16B). McKenzie, F., Turner, A., Withers, S., Dalzell, P., McGlynn, M., Kirk, E.P. Clin. Dysmorphol. (2002) [Pubmed]
  2. Mobius syndrome and limb abnormalities. Rogers, G.L., Hatch, G.F., Gray, I. J. Pediatr. Ophthalmol. (1977) [Pubmed]
  3. Familial bilateral blepharoptosis and subvalvular aortic stenosis. Bazopoulou-Kyrkanidou, E., Neou, P., Bartsocas, C.S., Kyrkanides, S., Fanourakis, I. Genetic counseling (Geneva, Switzerland) (1995) [Pubmed]
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