ABSTRACT
PURPOSE: Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and mandibular hypoplasia. As therapeutic options and prognosis depend on the time point of diagnosis, early recognition was attempted during routine prenatal ultrasound examinations. SUBJECTS AND METHODS: Fetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of hypohidrotic ectodermal dysplasia were investigated by sonography between the 20th and 24th week of gestation. RESULTS: In 4 male and 2 female fetuses reduced amounts of tooth germs were detected, whereas 5 fetal subjects showed the normal amount. Three-dimensional ultrasound evaluation revealed mandibular hypoplasia in 5 of the 6 fetuses with oligodontia. Molecular genetic analysis and/or clinical findings after birth confirmed the prenatal sonographic diagnosis in each subject. CONCLUSION: In subjects with a family history of hypohidrotic ectodermal dysplasia, the diagnosis of this rare condition can be established noninvasively by sonography in the second trimester of pregnancy. Early recognition of the disorder may help to prevent dangerous hyperthermic episodes in infancy and may allow timely therapeutic interventions.
Subject(s)
Ectodermal Dysplasia 1, Anhidrotic/diagnostic imaging , Imaging, Three-Dimensional , Tooth Germ/diagnostic imaging , Ultrasonography, Prenatal , Anodontia/diagnostic imaging , Anodontia/embryology , Early Diagnosis , Ectodermal Dysplasia 1, Anhidrotic/genetics , Female , Humans , Infant, Newborn , Mandible/diagnostic imaging , Mandible/embryology , Micrognathism/diagnostic imaging , Micrognathism/embryology , Pregnancy , Pregnancy Trimester, Second , Prognosis , Sensitivity and SpecificityABSTRACT
BACKGROUND: The aim of this study was to compare two different ultrasound pachymeters based on measurements of central corneal thickness (CCT). METHODS: CCT of 1,070 eyes of 535 patients (glaucoma and glaucoma suspects) was determined using the ultrasound pachymeter IOPac (Heidelberg Engineering, Germany) and SP-3000 (Tomey Corporation, Japan). With the IOPac 8 measurements are averaged by the instrument and with the SP-3000 200 measurements, respectively. For statistical purposes intraclass correlation coefficients (ICC) and Bland-Altman analysis were calculated. RESULTS: The mean CCT was 561.3+/-35.6 microm (IOPac) and 561.8+/-35.6 microm (SP-3000). The mean difference between both pachymeters was 0+/-8 microm. ICC was 0.9746 (95% confidence interval: 0.9714-0.9774). CONCLUSIONS: The use of the two instruments tested has no influence on the determination of CCT. The measured CCT of glaucoma patients or suspects were slightly above the CCT of normals of other studies.
