OBJECTIVE: To present the variable appearance of micrognathia in fetuses by three-dimensional ultrasonography and to describe practical methods for analysis of these volume data. METHODS: Three-dimensional multiplanar imaging and surface-rendering techniques were used to show various syndromes and diagnostic approaches for the evaluation of fetal micrognathia. RESULTS: Nine cases of fetal micrognathia are presented. Orthogonal multiplanar views were used to obtain a midsagittal facial profile. Examples of micrognathia include 3 cases of Pierre Robin sequence, cerebrocostomandibular syndrome, Cornelia de Lange syndrome, and hypochondrogenesis. Diagnostic pitfalls for micrognathia are also shown. CONCLUSIONS: Three-dimensional multiplanar imaging increases the likelihood that a true midline sagittal view of the facial profile is being analyzed. Surface rendering provides another way to qualitatively evaluate the fetal chin from different viewing perspectives. Three-dimensional ultrasonographic methods are useful adjuncts to the preliminary diagnostic impression from two-dimensional ultrasonography.
OBJECTIVE: To present the variable appearance of micrognathia in fetuses by three-dimensional ultrasonography and to describe practical methods for analysis of these volume data. METHODS: Three-dimensional multiplanar imaging and surface-rendering techniques were used to show various syndromes and diagnostic approaches for the evaluation of fetal micrognathia. RESULTS: Nine cases of fetal micrognathia are presented. Orthogonal multiplanar views were used to obtain a midsagittal facial profile. Examples of micrognathia include 3 cases of Pierre Robin sequence, cerebrocostomandibular syndrome, Cornelia de Lange syndrome, and hypochondrogenesis. Diagnostic pitfalls for micrognathia are also shown. CONCLUSIONS: Three-dimensional multiplanar imaging increases the likelihood that a true midline sagittal view of the facial profile is being analyzed. Surface rendering provides another way to qualitatively evaluate the fetal chin from different viewing perspectives. Three-dimensional ultrasonographic methods are useful adjuncts to the preliminary diagnostic impression from two-dimensional ultrasonography.
Authors: Dinah M Clark; Ilana Sherer; Matthew A Deardorff; Janice L B Byrne; Kathleen M Loomes; Malgorzata J M Nowaczyk; Laird G Jackson; Ian D Krantz Journal: Am J Med Genet A Date: 2012-06-27 Impact factor: 2.802