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Frontonasal dysgenesis, first branchial arch anomalies, and pericallosal lipoma: A new subtype of frontonasal dysgenesis
Author(s) -
GuionAlmeida Maria Leine,
RichieriCosta Antonio
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33485
Subject(s) - dysgenesis , anatomy , branchial arch , craniofacial , lipoma , differential diagnosis , medicine , biology , radiology , pathology , genetics , embryo , psychiatry
We report on two unrelated Brazilian boys with craniofacial anomalies that involve the frontonasal process and the first branchial arch associated with pericallosal lipoma. To our knowledge this condition seems to have been reported only once previously, but may represent a new condition within the group of the frontonasal dysgenesis. Clinical and imaging data, phenotypic evolution, and differential diagnosis are discussed. © 2010 Wiley‐Liss, Inc.