Quantitation of craniofacial anomalies in utero: Fetal Alcohol and Crouzon Syndromes and Thanatophoric Dysplasia

Abstract

The study of fetal growth and development by ultrasound has been greatly facilitated in the past few years by the availability of anthropometric standards for the fetal body. Thus, the obstetrician is able to discern between normal and grossly abnormal, and even to quantitate certain fine fetal structures such as the face. This paper presents results obtained from a group of 5 patients referred to the Medical Center from private practices in Indianapolis, Indiana. Prenatal cephalometric analyses by ultrasound suggested the presence of craniofacial anomalies in all 5 cases. However, such defects were not detectable by routine ultrasonographic examination. A clinical examination after birth of each of these 5 patients suggested the following diagnoses: Fetal Alcohol Syndrome (FAS) in 2 individuals, Fetal Alcohol Effects (FAE) in one individual, Crouzon Syndrome (CS) in one patient, and Thanatophoric Dysplasia (TD) in one patient. In order to compare the craniofacial measurement values for each patient to normal standards, we developed Z-Score profiles and Pattern Variability Indexes (PVI) as described by Garn et al. [1984, 1985]. The values presented here support the idea that even mildly abnormal fetal craniofacial patterns are detectable by this relatively new application of ultrasound. At the present time, no conclusions can be made regarding the diagnostic accuracy of these patterns and profiles. However, the potential value of fetal cephalometry for documenting craniofacial dysmorphology is clearly indicated.

Clays as a Host Matrix in the Synthesis of Organic Macrocycles

“…Escobar et al employed Z ‐scores of 22 craniofacial measurements by 2D ultrasound to describe pattern profile variability in fetal alcohol syndrome, Crouzon syndrome and thanatophoric dysplasia. Although not all fetuses with fetal alcohol syndrome had a variability index in the abnormal range, mid‐face measurements in these fetuses were very similar and gave a pattern distinctive for this syndrome4.…”

“…Escobar et al employed this method for ultrasound‐derived cephalometric measurements2, 3. The authors found that pattern profile analysis may have an additional value in the diagnosis of fetuses with mild abnormalities or abnormality patterns4.…”

Craniofacial variability index determined by three‐dimensional ultrasound in isolated vs. syndromal fetal cleft lip/palate

“…This method was applied by Escobar et al , using 2D ultrasound in fetal alcohol syndrome, Crouzon syndrome and thanatophoric dysplasia. They stressed the potential value of this method for documenting craniofacial dysmorphology in utero 20.…”

Objective techniques for craniofacial assessment: What are the choices?

“…There are many landmarks and planes from which to choose, and normative data have been established [Riolo et al, 1974;Saksena et al, 1987]. This technique has been applied to syndrome diagnosis, to the evaluation of developmental abnormalities [Pruzansky, 1977;Cohen, 1981Cohen, , 1985Kreiborg, 1985], and to the quantitation of craniofacial anomalies in utero [Escobar et al, 1993]. Richtsmeier [1987,1988] has taken cephalometrics a stage further using finite element scaling analysis, which quantifies the difference in size and shape between forms, without reference to any fixed arbitrary registration point or orientation line.…”