Biomedical subjects

N M Roelfsema

Publications and source records attributed to N M Roelfsema.

3 recordsLinked to original sources

PubMed2006

Three-dimensional sonographic determination of normal fetal mandibular and maxillary size during the second half of pregnancy.

OBJECTIVE: To explore the various ways of obtaining fetal maxillary and mandibular size with three-dimensional (3D) ultrasound, with a view to developing a tool for identifying minor anomalies in the lower facial region. METHODS: Serial 3D sonographic measurements of the fetal jaws were made in 126 normal singleton pregnancies at 18-34 weeks of gestation for determination of degree of maxillary and mandibular protrusion, maxillary and mandibular corpus lengths, mid- and lower facial depths and maxillary and mandibular curvature. In a sub study the reproducibility of the measurements was evaluated. RESULTS: The coefficient of variation in the reproducibility study varied between 7.1 and 10.5%. For all parameters except maxillary and mandibular protrusion, there was a significant gestational age-related increase. Ratios of maxillary/mandibular protrusion, maxillary/mandibular corpus lengths, mid-/lower facial depths and maxillary/mandibular curvature all showed a significant gestational age-related decrease, with the most distinct decrease in the mid-/lower facial depth ratio. CONCLUSIONS: 3D sonographic measurement of the fetal maxilla and mandible demonstrated an acceptable intraobserver variability for all measurements. The mid-/lower facial depth ratio appears to be most valuable in determining abnormal mandibular development.

Adult↗

PubMed2004

The role of three-dimensional ultrasound in visualizing the fetal cranial sutures and fontanels during the second half of pregnancy.

OBJECTIVES: The aim of this study was to evaluate the significance of three-dimensional (3D) ultrasound in visualizing fetal cranial sutures and fontanels and to determine factors that could influence visualization and image quality. METHODS: Serial 3D ultrasound examinations were evaluated for visibility of fetal cranial sutures and fontanels, image quality and possible influencing parameters in the second half of pregnancy. Thirty fetuses were scanned at four different gestational ages providing a data set of 120 cases. RESULTS: Most (82-100%) cranial sutures and fontanels could be visualized with 3D ultrasound. However, the sagittal suture and posterior fontanel were visualized in only 47% and 42%, respectively. Gestational age significantly influenced the visibility of the sutures and fontanels, image quality decreasing with advancing gestational age. CONCLUSIONS: 3D ultrasound can be a reliable technique for visualizing most fetal cranial sutures and fontanels. By performing a sagittal and a transverse scan, most of the sutures and fontanels can be made visible during the second half of pregnancy. Visualization depends on gestational age.

Adult↗

PubMed1996

The EEC syndrome: a literature study.

Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome. Mental retardation and various abnormalities and dysmorphisms of the ears and face, reported in EEC syndrome, do not really seem to be part of it. Conductive hearing loss is associated with clefting. A score for the severity of symptoms in the EEC syndrome is described, and using this score it appears that isolated cases are generally more severely affected than familial cases. We did not find signs of genomic imprinting or anticipation in published EEC families. We did find, however, that interfamilial variability is significantly larger than intrafamilial variability, pointing to genetic (allelic?) heterogeneity. The penetrance of the EEC-mutation is estimated to be between 93% and 98%.

Abnormalities, Multiple↗