ABLEPHARON MACROSTOMIA SYNDROME WITH ASSOCIATED CUTIS LAXA - POSSIBLELOCALIZATION TO 18Q

The ablepharon-macrostomia (AMS) and Barber-Say syndromes (BSS) are ra re disorders characterized by absence of the eyelids or ectropion, mac rostomia, ambiguous genitalia, abnormal ears, rudimentary nipples, and dry, redundant skin, Patients with Barber-Say syndrome also have hype rtrichosis. We present a patient with a phenotype similar to AMS who h as a complex rearrangement of chromosome 18, involving both an inversi on and interstitial deletion, Our patient lacks the typical features o f the 18q deletion syndrome, We review AMS and BSS as compared with ou r patient, and recognize cutis laxa as a feature shared by all. We pro pose that the gene(s) for this phenotype may lie on chromosome 18 in t he region of the deletion or inversion breakpoints.