HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Ablepharon-Macrostomia syndrome--extension of the phenotype.

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.
AuthorsStaci Kallish, Donna M McDonald-McGinn, Mieke M van Haelst, Scott P Bartlett, James A Katowitz, Elaine H Zackai
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 155A Issue 12 Pg. 3060-2 (Dec 2011) ISSN: 1552-4833 [Electronic] United States
PMID22002929 (Publication Type: Case Reports, Journal Article)
CopyrightCopyright © 2011 Wiley Periodicals, Inc.
Topics
  • Abnormalities, Multiple (diagnosis)
  • Eye Abnormalities (diagnosis)
  • Facies
  • Female
  • Humans
  • Infant, Newborn
  • Macrostomia (diagnosis)
  • Phenotype

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: