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Evidence for autosomal dominant inheritance of ablepharon–macrostomia syndrome§

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  • This article is a US Government work and, as such, is in the public domain in the United States of America.

  • Disclosure: The authors have no conflict of interest to disclose, and there was no financial support. The views expressed in this article are those of the author and do not necessarily reflect the official policy or position of the Department of the Navy, Army, Department of Defense, nor the US Government. We certify that all individuals who qualify as authors have been listed; each has participated in the conception and design of this work, the analysis of data (when applicable), the writing of the document, and the approval of the submission of this version; that the document represents valid work; that if we used information derived from another source, we obtained all necessary approvals to use it and made appropriate acknowledgements in the document; and that each takes public responsibility for it.

  • §

    How to Cite this Article: Rohena L, Kuehn D, Marchegiani S, Higginson JD. 2011. Evidence for autosomal dominant inheritance of Ablepharon–Macrostomia syndrome. Am J Med Genet Part A 155:850–854.

Abstract

Ablepharon–macrostomia syndrome (AMS) is characterized by absent or short eyelids, macrostomia, ear anomalies, absent lanugo and hair, redundant skin, abnormal genitalia, and developmental delay in two-thirds of the reported patients. Additional anomalies include dry skin, growth retardation, hearing loss, camptodactyly, hypertelorism, absent zygomatic arches, and umbilical abnormalities. We present the second familial case of ablepharon–macrostomia syndrome in a newborn female and her 22-year-old father making autosomal dominant inheritance more likely than the previously proposed autosomal recessive transmission for this disorder. These cases likely represent the 16th and 17th reported cases of AMS and the first case suspected on prenatal ultrasound. Additionally, the child shows more prominent features of the disorder when compared to her father documenting variable expression and possible anticipation. Published 2011 Wiley-Liss, Inc.

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