title: Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q.
abstract: 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 inversion and interstitial deletion. Our patient lacks the typical features of the 18q deletion syndrome. We review AMS and BSS as compared with our patient, and recognize cutis laxa as a feature shared by all. We propose that the gene(s) for this phenotype may lie on chromosome 18 in the region of the deletion or inversion breakpoints.
authors.affiliation: Department of Pedriatrics, University of Pennsylvania, Philadelphia 19104, USA.
authors.forename: J E
authors.initials: JE
authors.lastname: Pellegrino
authors.forename: R E
authors.initials: RE
authors.lastname: Schnur
authors.forename: L
authors.initials: L
authors.lastname: Boghosian-Sell
authors.forename: G
authors.initials: G
authors.lastname: Strathdee
authors.forename: J
authors.initials: J
authors.lastname: Overhauser
authors.forename: N B
authors.initials: NB
authors.lastname: Spinner
authors.forename: T
authors.initials: T
authors.lastname: Stump
authors.forename: K
authors.initials: K
authors.lastname: Grace
authors.forename: E H
authors.initials: EH
authors.lastname: Zackai
mesh_terms: D000015:Abnormalities, Multiple; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D003483:Cutis Laxa / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005143:Eyelids / Q000002:abnormalities; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics; D009558:Nipples / Q000002:abnormalities; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics; D013577:Syndrome