Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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MeSH Review:

Macrostomia

Tonk, V.S. et al., Johnson, J.P. et al., Ioan, D. et al., Bauer, B.S. et al., Irving, D.W. et al.

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Disease relevance of Macrostomia

The family manifests a variety of Goldenhar-like findings, including epibulbar dermoids, hemifacial microsomia, preauricular tags, macrostomia, and micrognathia in addition to classical ear, radial, and anal findings of TBS [1].
Hypoplasia of the first arch can account for retinoid-induced macrostomia and microstomia [2].

High impact information on Macrostomia

These individuals help define a syndrome with variable mental disability, attention deficit-hyperactivity disorder, and a distinctive facial appearance with wide palpebral fissures, broad nasal root, macrostomia, ear malformations, and prominent incisors [3].
Invited discussion of surgical repair for congenital macrostomia: vermilion square flap method [4].
A 4-yr-old boy with psycho-motor retardation, microcephaly, flat occipital, mongoloid slant, macrostomia with thickened lower lip and long filiform fingers is presented [5].

References

Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum. Johnson, J.P., Poskanzer, L.S., Sherman, S. Am. J. Med. Genet. (1996) [Pubmed]
Morphogenesis of isotretinoin-induced microcephaly and micrognathia studied by scanning electron microscopy. Irving, D.W., Willhite, C.C., Burk, D.T. Teratology (1986) [Pubmed]
Molecular cytogenetic characterization of a familial der(1)del(1)(p36.33)dup(1)(p36.33p36.22) with variable phenotype. Tonk, V.S., Wilson, G.N., Yatsenko, S.A., Stankiewicz, P., Lupski, J.R., Schutt, R.C., Northup, J.K., Velagaleti, G.V. Am. J. Med. Genet. A (2005) [Pubmed]
Invited discussion of surgical repair for congenital macrostomia: vermilion square flap method. Bauer, B.S., Margulis, A. Annals of plastic surgery. (2002) [Pubmed]
Partial 9p monosomy--a case with hypothyroidism. Ioan, D., Dumitriu, L., Muşeţeanu, P., Bereliuc, L., Belengeanu, V., Maximilian, C. Endocrinologie. (1985) [Pubmed]

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