Human Genetics

, Volume 97, Issue 4, pp 532–536 | Cite as

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

  • Joan E. Pellegrino
  • Rhonda E. Schnur
  • Leslie Boghosian-Sell
  • Gordon Strathdee
  • Joan Overhauser
  • Nancy B. Spinner
  • Tammy Stump
  • Kimberly Grace
  • Elaine H. Zackai
Original Investigation

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 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.

Keywords

Internal Medicine Metabolic Disease Typical Feature Rare Disorder Deletion Syndrome 

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Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  • Joan E. Pellegrino
    • 1
    • 2
  • Rhonda E. Schnur
    • 1
    • 2
    • 3
  • Leslie Boghosian-Sell
    • 4
  • Gordon Strathdee
    • 4
  • Joan Overhauser
    • 4
  • Nancy B. Spinner
    • 2
    • 5
  • Tammy Stump
    • 5
  • Kimberly Grace
    • 2
  • Elaine H. Zackai
    • 1
    • 2
  1. 1.Deparment of Pedriatrics, The Children's Hospital of PhiladelphiaUniversity of PennsylvaniaPhiladelphiaUSA
  2. 2.Division of Human Genetics and Molecular Biology, The Children's Hospital of PhiladelphiaUniversity of PennsylvaniaPhiladelphiaUSA
  3. 3.Division of Dermatology, The Children's Hospital of PhiladelphiaUniversity of PennsylvaniaPhiladelphiaUSA
  4. 4.Division of Biochemistry and Molecular Biology, Thomas Jefferson Medical CollegeThomas Jefferson UniversityPhiladelphiaUSA
  5. 5.Division of Pathology, The Children's Hospital of PhiladelphiaUniversity of PennsylvaniaPhiladelphiaUSA

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