Ablepharon macrostomia syndrome with associated cutis laxa: Possible localization to 18q |
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| Authors: | Joan E. Pellegrino Rhonda E. Schnur Leslie Boghosian-Sell Gordon Strathdee Joan Overhauser Nancy B. Spinner Tammy Stump Kimberly Grace Elaine H. Zackai |
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| Affiliation: | (1) Deparment of Pedriatrics, The Children’s Hospital of Philadelphia, University of Pennsylvania, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA, US;(2) Division of Human Genetics and Molecular Biology, The Children’s Hospital of Philadelphia, University of Pennsylvania, 34th Street and Civic Center Boulevard, Wood Building, 1st Floor, Philadelphia, PA 19104, USA, Fax: (215) 590-3298, US;(3) Division of Dermatology, The Children’s Hospital of Philadelphia, University of Pennsylvania, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA, US;(4) Division of Biochemistry and Molecular Biology, Thomas Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107,USA, US;(5) Division of Pathology, The Children’s Hospital of Philadelphia, University of Pennsylvania, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA, US |
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| 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. Received: 1 March 1995 / Revised: 20 May 1995 |
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