Article
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.
Human genetics - 1 Apr 1996
Pellegrino J E, Schnur R E, Boghosian-Sell L, Strathdee G, Overhauser J, Spinner N B, Stump T, Grace K, Zackai E H
Abstract excerpt
The ablepharon-macrostomia (AMS) and Barber-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 complex rearrangement of chromosome 18, involving both an...
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