Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q

Abstract

The ablepharon-macrostomia (AMS) and Barher-Say syndromes (BSS) are rare disorders characterized by absence of the eyelids or ectropion, macrostomia, ambiguous genitalia, abnormal ears, rudimentary nipples, and dry, redundant skin. Patients with Barber-Say syndrome also have hypertrichosis. We present a patient with a phenotype similar to AMS who has a… (More)
DOI: 10.1007/BF02267081

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