Quantitative Measures of Craniofacial Dysmorphology in a Family Study of @entity161 and XXXX .

@entity2122 @entity1 @entity162 @entity2085 @entity146 @entity75 @entity1423 @entity914 @entity161 @entity716
UNASSIGNED: Several laboratories, including ours, have reported an overrepresentation of @entity2122 ( @entity2122 ) anomalies in @entity161 ( @entity161 ). How might this dysmorphology arise in a @entity75 ? Because the brain and face derive from shared embryologic primordia and morphogenetic forces, maldevelopmental processes may result in both @entity2122 and @entity75 . Our approach is 2-pronged. First, we have employed, for the first time in the study of @entity146 , objective measures of @entity2122 morphology that utilize an extensive normative database, permitting computation of standardized scores for each subject. Second, we have rendered these findings biologically interpretable by adopting principles of embryology in the analysis of dysmorphology. Dependent measures in this investigation focused on derivatives of specific @entity2085 and were contrasted among probands with @entity914 , their first-degree relatives, and normal controls (NC). Subject groups included @entity1 with a diagnosis of @entity161 (N = 39) or @entity162 with @entity716 features (N = 32), their clinically unaffected relatives (N = 82 and N = 41, respectively), and NC (N = 95) subjects. Anomalies involving derivatives of frontonasal and mandibular @entity2085 showed a clear association with @entity716 , as well as @entity1423 in relatives in both diagnostic groups. In contrast, one class of @entity2122 emerged only among @entity161 probands and their first-degree relatives: dysmorphology arising along the junction of the frontonasal and maxillary prominence derivatives, manifested as marked asymmetries. This class was not overrepresented among the BP @entity1 nor among their relatives, indicating that this dysmorphology appears to be specific to @entity161 and not a generalized feature of @entity716 . We discuss these findings in light of embryologic models that relate brain regions to specific @entity2122 areas.
