Article
Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.
American journal of medical genetics. Part C, Seminars in medical genetics - 15 Feb 2010
Kauvar Emily F, Solomon Benjamin D, Curry Cynthia J R, van Essen Anthonie J, Janssen Nicole, Dutra Amalia, Roessler Erich, Muenke Maximilian
Abstract excerpt
Holoprosencephaly (HPE), the most common developmental disorder of the human forebrain, is occasionally associated with the spectrum of agnathia, or virtual absence of the mandible. This condition results in a constellation of structural cerebral and craniofacial abnormalities. Here we present two new patients and review 30 patients from the literature with HPE and variants of agnathia. The majority of these...
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