Causes
The trigger for the development of cranial pathology is the disruption of the formation of the cranium inside the mother’s womb in the first 12 weeks. Typically, the development of the disease is facilitated by various lesions of infectious and viral origin suffered during pregnancy. The influence of genetics of relatives is also possible. The hernia is localized in the occipital area, sometimes moving slightly above or below it. It is characterized by a certain deformation of the skull, which reduces the patient’s vital functions.
Further research
When a cleft palate is detected, it is important to determine whether it is unilateral, bilateral, or median, and whether there is any cleft plate or amniotic band because the prognosis and associated conditions vary with it. Combined cleft lip and palate is more common than cleft lip itself, and the problems associated with it are more severe. Unilateral/bilateral and median cleft lips are considered different conditions because they have different embryological origins.
Whenever a craniofacial abnormality is discovered, it is important to perform a detailed scan to look for additional abnormalities, especially other potentially subtle malformations of the face, central nervous system, heart, or limbs. Many craniofacial anomalies, including facial clefts, micrognathia, craniosynostosis, hypertelorism/hypotelorism, microphthalmia/anophthalmia, cataracts, and anotia/microtia, are associated with various syndromes and conditions (Table 4).
Overall, 10% of clefts were associated with a chromosomal abnormality and 27% had associated abnormalities. Approximately 15% of cases of craniosynostosis are syndromic. A protruding tongue may be a sign of Beckwith-Wiedemann syndrome or Down syndrome.
Table 4.
| Anomaly | Associated defects | Syndromes |
| Facial cleft | Upper limbs | Ectrodactyly, ectodermal dysplasia, cleft syndrome, oral-facial syndrome type I |
| Facial cleft | Other anomalies of the facial skull and heart | CHARGE syndrome (coloboma, cardiac anomaly, choanal atresia, mental retardation, genital and ear anomalies) |
| Micrognathia | Ears | Goldenhar syndrome |
| Micrognathia | Limbs | Mouth-mandibular-limb hypogenesis syndrome, Nager's syndrome, cleft syndrome, Roberts' syndrome |
| Micrognathia | Other facial anomalies | Robin syndrome, Treacher Collins syndrome |
| Craniosynostosis | Other anomalies of the facial skull and limbs | Apert syndrome, Crouzon syndrome, Carpenter syndrome, thanatophore dysplasia, Pfeiffer syndrome, Saetre-Chotzen syndrome, Muenke syndrome, Jackson-Weiss syndrome, Antley-Bixtler syndrome, Wolf-Hirschhorn syndrome (4p) |
Treatment options
The main method of treating a cranial hernia is surgery. The desired period for its implementation is between 1 and 3 years of age. In cases of rapid development of the tumor, surgical intervention is performed immediately, solely according to indications. The operation is performed extracranial and intracranial. In the first option, the hernial sac is completely removed and existing skull defects are corrected without opening it. The method is relevant at an early stage of diagnosing the disease. In the second case, the operation is performed on patients over 1 year of age, when plastic surgery of a skull bone defect is required when a hernia grows into the cavity of the box. Often such manipulations have consequences in the form of complications such as hydrocephalus, leukorrhea, etc. To avoid worsening the situation, dehydration and lumbar puncture are performed.
Changes in the facial part of the skull
Facial assessment should be performed in three planes to evaluate different facial structures as this facilitates the detection of abnormalities (Table 3). According to the ISUOG guidelines, the minimum assessment of the fetal face includes the presence of both orbits, an assessment of the nose/nostrils, the presence of a mouth, and preferably an assessment of the facial profile and lips.
Table 3.
| Plane | Structure | Index | Anomaly |
| Venechnaya | Lips | Integrity violation | Cheiloschisis |
| Mouth | Small or continuous, open | Microstomia or syndromes | |
| Nose | Flattened or one nostril present | Hypoplasia or single nostril syndrome | |
| Palpebral groove | Tilt up or down | ||
| Transverse | Orbits | Small, absent, abnormal interocular diameter | Microphthalmia/anophthalmia, hypotelorism/hypertelorism |
| Medial cyst | Lacrimal sac cyst | ||
| Lens | Echogenic | Cataract | |
| Tooth buds | Clefts, abnormal number | Cleft palate, oligodontia/anodontia | |
| Lower jaw | Small | Micrognathia | |
| Tongue | Missing or double equal sign | Cleft uvula | |
| Ears | Incorrect size, shape, location or unfolded | Ear developmental anomaly | |
| Sagittal | Forehead | Convex | Skeletal dysplasia |
| Flattened | Microcephaly | ||
| impending | Additional nose | ||
| Nose | Flattened | Syndromes | |
| Absent or shortened nasal bone | Aneuploidy | ||
| Upper jaw | Premaxillary protrusion | Bilateral facial cleft | |
| Soft sky | No soft palate or "equals sign" | Cleft soft palate, accessory uvula | |
| philtrum | Long or short | Syndromes | |
| Lower jaw | Small | Micrognathia | |
| Symmetry | Facial asymmetry | ||
| Language | Large, protruding, massively displaced back | Macroglossia, tumor glossoptosis | |
| Ears | Abnormal size, shape or location or unfolded | Ear developmental anomaly |
A cleft is diagnosed when the integrity of the lip is lost on one or both sides on the coronal projection (Fig. 4, 5). Bilateral cleft lip suggests the presence of a premaxillary convexity in sagittal view (Fig. 6). It is difficult to diagnose an incomplete cleft lip (Fig. 7), often only the cleft palate is visible. Using color Doppler, it is possible to see the flow of amniotic fluid that normally passes through the nostrils during breathing, in the case of an abnormality through the palate when it has a cleft.
Figure 4: Second trimester fetus with unilateral cleft lip.
Coronal view of the fetal face shows loss of integrity (arrow) of the upper lip (L).
Figure 5: Second trimester fetus with bilateral cleft lip.
Coronal view of the fetal face shows loss of integrity (arrows) of the upper lip (L) on both sides (1 and 2).
Figure 6: Second trimester fetus with premaxillary bulge.
Sagittal view of the fetal face shows a soft tissue mass (arrow) protruding forward under the nose (N).
Figure 7: Second trimester fetus with a partial unilateral cleft lip. The coronal plane of the fetal face shows partial loss of integrity (arrows) of the upper lip (L).
The facial profile can be assessed using the midsagittal projection. In particular, frontal protuberances (Figure 8), micrognathia (Figure 9) or a flat nose (Figure 10) may be found. From the lateral side, ear abnormalities can be assessed (Fig. 11). Both eyes and their abnormalities can be assessed in the axial plane (Fig. 12-14).
Figure 8: Second trimester fetus with prominent forehead.
The midsagittal view shows the straight convexity (arrow) of the forehead (FH).
Figure 9: Second trimester fetus with micrognathia.
The midsagittal view shows a small and receding (arrow) chin (C).
Figure 10: Second trimester fetus with a flat nose.
Midsagittal view shows a flat (arrow) nose (N).
Figure 11: Second trimester fetus with ear anomaly.
Lateral sagittal view shows a small (arrows) right (R) ear (E) with loss of normal structure.
Figure 12: Second trimester fetus with hypotelorism.
The axial view shows the abnormally reduced distance (arrows) between the two orbits (circle).
Figure 13: Second trimester fetus with bilateral cataracts.
Axial view shows echogenicity (arrows) in the lens (L) of both eyes.
Figure 14: Fetus in the second trimester with a protrusion between the two orbits. Axial view shows a soft tissue mass (arrows) protruding between the two orbits (circles).
It is worth distinguishing between micrognathia (small lower jaw) and retrognathia - displacement of the jaw towards the back. It is differentiated by determining the lower angle of the face in relation to the width of the lower jaw to the width of the upper jaw. If there is a strong family history or if an anomaly is suspected, measurements of fetal structures such as the length of the nasal bones, the length of the ear, the length of the upper jaw, and the diameter of the eye and interocular space may be performed.
What treatment do we offer?
Qualified doctors are always ready to help in any difficult situation. Our doctors with whom we cooperate have extensive experience. If you are still in doubt, we suggest you familiarize yourself with the available advantages. Extensive experience in organizing the treatment process in many hospitals and clinics across the country. Application of the latest methods and technologies during procedures, operations and rehabilitation. Treatment is available using an insurance policy and on a paid basis. Absolutely anyone can become clients, regardless of age, citizenship, location, gender, social status and other things. With us, you always have access to emergency hospitalization as soon as possible. You can get advice from us by contacting us in any convenient way. We comprehensively study the medical history of the applicant, taking into account all factors, concomitant diseases and existing pathologies. The organization of all measures for transportation, treatment, hospital stay, rehabilitation, and obtaining additional services falls entirely on us. A cranial hernia is a congenital disease in which the membranes of the brain labyrinth through structural defects in the cranial bones and pass to the body of the gray matter. The described defect occurs in one newborn out of 8 thousand. Pathology begins its development in the womb in the early stages of pregnancy. It is not yet possible to completely get rid of the consequences of the disease. However, once a diagnosis is made, immediate surgery is required.
3D/4D volumetric visualization
The use of three-dimensional ultrasound, including surface imaging, multiplanar and multi-slice imaging, allows accurate assessment of various craniofacial structures and their anomalies, including cleft palate (Figs. 15, 16) and craniosynostosis. Images may be useful for counseling (Figs. 17, 18). The use of 3D (Fig. 19) can help differentiate between closed and open sutures. The use of 4D can be used to evaluate facial expressions.
Figure 15: Second trimester fetus with bilateral cleft lip and palate. 3D axial view shows loss of integrity (arrows) of the lip (L) and palate (P) on both sides.
Figure 16: Second trimester fetus with midline cleft lip and palate. 3D axial view shows loss of integrity (arrows) of the lip (L) and palate (P) in the midline. The colored boxes on the right indicate the orientation of the active images on the left: axial view (1), sagittal view (2), and coronal view (3).
Figure 17: Second trimester fetus with unilateral cleft lip.
3D surface image of the fetal face shows a cleft (arrow) on the upper lip (L).
Figure 18: Second trimester fetus with midline cleft.
3D surface image of the fetal face shows a cleft (arrow) along the midline of the upper lip (L).
Figure 19: Second trimester fetus with craniosynostosis.
3D surface image in skeletal mode, axial view of the skull shows narrowing (arrows) of the coronal suture (CS) and part of the anterior fontanelle (AF).
Intervertebral hernia
Occurs when the fibrous ring of the intervertebral disc ruptures, caused by excessive physical activity. It most often occurs in the lumbar region, since it is where the greatest pressure falls. The appearance of a hernia can be accompanied by pain of varying degrees of intensity, and if the spinal nerve roots are involved in the process, by sensory and motor disturbances.
Small intervertebral hernias respond well to conservative therapy. Large hernias, as well as hernias accompanied by neurological symptoms or difficult to treat conservatively, are operated on.
Forecast
Prognosis and management depend on the type and severity of craniofacial anomalies, underlying condition, or chromosomal mutations. If the prognosis is poor, such as in the case of multiple anomalies or associated aneuploidies, termination of pregnancy may be an option depending on gestational age and local norms. Alternatively, continuing pregnancy with prenatal counseling is appropriate for mild and isolated disorders such as cleft lip.
Isolated macrocephaly (with a head circumference that is 2 to 3 standard deviations above the mean for gestational age), dolichocephaly, and brachycephaly usually have a favorable outcome.
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