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Case Reports
. 2011:2011:593045.
doi: 10.1155/2011/593045. Epub 2012 Jan 5.

Clinical variant of ablepharon macrostomia syndrome

Jose Larumbe  1 , Patricia Villalta, Ines Velez
Affiliations
Case Reports

Clinical variant of ablepharon macrostomia syndrome

Jose Larumbe et al. Case Rep Dermatol Med. 2011.

Abstract

Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to increase the knowledge of this condition among the dental profession.

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Figures

Figure 1
Figure 1
Marked craniofacial deformities.
Figure 2
Figure 2
Hypoplastic ears fused to head, underdeveloped nose, and macrostomia.
Figure 3
Figure 3
Severe contracture of the left elbow.
Figure 4
Figure 4
Generalized.
See this image and copyright information in PMC

References

    1. Pellegrino JE, Schnur RE, Boghosian-Sell L, et al. Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. Human Genetics. 1996;97(4):532–536. - PubMed
    1. Cruz AAV, Guimaraes FC, Obeid HN, Ferraz VEF, Noce TR, Martinez FE. Congenital shortening of the anterior lamella of all eyelids: the so- called ablepharon macrostomia syndrome. Ophthalmic Plastic and Reconstructive Surgery. 1995;11(4):284–287. - PubMed
    1. Ferraz VEF, Melo DG, Hansing SE, Cruz AAV, Pina-Neto JM. Ablepharon-macrostomia syndrome: first report of familial occurrence. American Journal of Medical Genetics. 2000;94(4):281–283. - PubMed
    1. McCarthy GT, West CM. Ablepharon sic macrostomia syndrome. Developmental Medicine & Child Neurology. 1997;19:659–672. - PubMed
    1. Price NJ, Pugh RE, Farndon PA, Willshaw HE. Ablepharon macrostomia syndrome. British Journal of Ophthalmology. 1991;75(5):317–319. - PMC - PubMed

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