Disease relevance of Microstomia

• Dominant inheritance of cleft palate, microstomia and micrognathia--possible linkage to the fragile site at 16q22 (FRA16B) [1].
• Limb malformations have been associated with a spectrum of oral facial anomalies consisting of micrognathia, hypoglossia, microstomia, hypodontia, oral bands, and dysarthria [2].
• A boy and his mother with bilateral congenital blepharoptosis, downslanting palpebral fissures, hypertelorism, microcephaly, short nose with flattened nasal root, microstomia, prominent lateral palatine ridges, bifid (boy) hypoplastic (mother) uvula, generalized dental caries, short neck, peculiar voice and mild conductive deafness are reported [3].

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].

References