Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome
Volume: 149A, Issue: 5, Pages: 837 - 843
Published: Apr 23, 2009
Abstract
Treacher Collins syndrome (TCS, OMIM 154500) is a well‐defined mandibulofacial dysostosis characterized by symmetric facial anomalies consisting of malar hypoplasia, coloboma of the lower eyelid, dysplastic ears, micrognathia, cleft palate and deafness. Other mandibulofacial dysostoses (MDs) such as Toriello (OMIM 301950), Bauru (OMIM 604830), Hedera–Toriello–Petty (OMIM 608257), and Guion‐Almeida (OMIM 610536) syndromes are less well...
Paper Details
Title
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from Treacher Collins syndrome
Published Date
Apr 23, 2009
Volume
149A
Issue
5
Pages
837 - 843
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