Ablepharon–Macrostomia syndrome—Extension of the phenotype

Authors

  • Staci Kallish,

    1. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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  • Donna M. McDonald-McGinn,

    1. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Mieke M. van Haelst,

    1. Department of Medical Genetics, University Medical Centre, Utrecht, the Netherlands
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  • Scott P. Bartlett,

    1. Division of Plastic Surgery, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. Department of Plastic Surgery, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • James A. Katowitz,

    1. Division of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. Division of Ophthalmology, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
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  • Elaine H. Zackai

    Corresponding author
    1. Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
    2. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania
    • Department of Clinical Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., 8 Central, Room 8C05, Philadelphia, PA 19104.
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  • How to Cite this Article: Kallish S, McDonald-McGinn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. 2011. Ablepharon–Macrostomia syndrome—Extension of the phenotype. Am J Med Genet Part A 155: 3060–3062.

Abstract

Ablepharon–Macrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported. © 2011 Wiley Periodicals, Inc.

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