| Popis: |
Facial dysmorphism includes all abnormalities of facial features that are usually associated with syndromic conditions. The objectives of this chapter are first to describe the systematic evaluation of the fetal face using multiplanar evaluation by ultrasound (US), and second to review the anomalies at this level and the conditions related to them. Detection is challenging considering the large phenotypic variability in human face. Thus isolated facial abnormalities must be evaluated, taking into account the facial characteristics of parents. Abnormalities that are included in this chapter are: 1. a sloping forehead that is due to a severe hypoplasia of frontal lobes that occurs in microcephaly; 2. frontal bossing, prominence of the frontal bone due to a premature closure of cranial sutures, which can be found in Apert syndrome, achondroplasia, and thanatophoric dysplasia; 3. hemifacial microsomia, an asymmetric hypoplasia of facial structures (hemifacial microsomia, cleft lip/palate, microphthalmia, external ear anomalies), mainly related to oculoauriculovertebral spectrum, which is a rare condition with poor prognosis including mental retardation and high birth mortality of 20%; and 4. otocephaly, a severe and lethal malformation characterized by an absence or hypoplasia of the mandible, aglossia, proximity of the temporal bones, and abnormal horizontal position of the ears. It can be found isolated or associated with anomalies such as holoprosencephaly, neural tube defects, cephalocele, midline proboscis, tracheoesophageal fistula, cardiac anomalies, and adrenal hypoplasia. |
