**6.1. Median cleft lip**

**Pathology:** Facial clefts encompass a large spectrum of severity, from minimal defects, such as a bifid uvula, linear indentation of the lip, or submucous cleft of the soft palate, to large, deep,

**Diagnosis:** To set a diagnosis, both transverse and coronal planes can be used. The accuracy of ultrasound in detecting small lesions has not been established; however, color Doppler might be useful to demonstrate the flow across the palate in the case of the cleft palate. Diagnosis of isolated cleft palate is difficult. Diagnosis of the cleft lip and palate at 11–13 weeks gestation can be obtained using axial planes at the level of the bony palate. In rare cases, the retronasal triangle in a coronal view and the maxillary gap in the standard mid-sagittal view of the face

**Associated anomalies:** There have been found associated anomalies in 50% of the patients with isolated CP and 13% of those with CL-CP In cases of isolated CL or CP, the most frequent anomaly is clubfoot, whereas in cases of CL-CP, it is polydactyly. It is particularly important

**Figure 16.** Schematic representation of various types of the cleft lip and the cleft palate. (A) Normal, (B) Isolated cleft lip, (C) Unilateral cleft lip, maxilla and anterior palate, (D) Bilateral cleft lip, maxilla and anterior palate, (E) Isolated cleft

defects of the facial bones and soft tissues (**Figure 16**).

106 Congenital Anomalies - From the Embryo to the Neonate

to notice the association with congenital heart disease [36].

palate, and (F) Bilateral cleft lip and palate [34].

may be helpful [35].

**Synonyms:** Complete median cleft lip, pseudomedian cleft lip, and premaxillary agenesis.

**Definition:** A quadrangular or triangular median defect of the upper lip, which could extend to the posterior of the nose (**Figure 17**) [38].

**Incidence:** Median cleft lip (MCL) is noticed in 0.2–0.7% of all cases of the cleft lip [39].

**Embryology:** The maxillary prominences are joined by the frontonasal prominence, from where the maxilla and the median region of the upper lip start (**Figure 9**). It is the exact area which is left underdeveloped or absent in the median cleft lip cases. There is a strong link between the development of the midline facial structures and the process by which the forebrain is differentiated. The prechordal mesenchyma, the tissue interposed between the prosencephalon, and the roof of the primitiva mouth (stomodeum) are likely to induce both events [40]. Cerebral anomalies, such as holoprosencephaly, are often linked with the midline abnormalities of the face.

**Etiology and pathology:** MCL is described only as part of two distinct syndromes: MCL with orbital hypotelorism, in itself a synonym for holoprosencephaly, and MCL with orbital hypertelorism. In the former case, the premaxillary bone, nasal septum, nasal bones, and crista galli

**Figure 17.** Axial scan of the median cleft lip.

are absent. The ethmoid bone (that set the interorbital distance) is hypoplastic. The secondary palate may or may not be involved. MCL with hypertelorism (also known as "median cleft face syndrome" or "frontonasal dysplasia") is characterized by the presence of a bifid nose and cranium bifidum occultum, as well as of the premaxilla, while the brain is normal in most cases.

Fetuses with large tumors are best delivered by cesarean section, and an expert pediatric team

Congenital Abnormalities of the Fetal Face http://dx.doi.org/10.5772/intechopen.73072 109

**Synonyms:** Cleft palate, micrognathia and glossoptosis, and Pierre Robin syndrome.

**Definition:** This anomaly is associated with micrognathia and glossoptosis, with a posterior

**Etiology:** In 40% of the cases, the anomaly is isolated and mostly sporadic, although sometimes familiar cases suggest both autosomal recessives and autosomal dominant patterns of transmission. It is most frequently seen in association with other anomalies or with recog-

**Embryology:** The mandible starts at the point in which the two mandibular prominences join to delimit the inferior part of the stomodeum. The fusion of the three palatine processes forms the palate. Finally, the frontonasal prominence creates the median, and the maxillary processes create the two lateral ones. It is apparent that the three components of this defect are related to one another. Possibly, an early hypoplasia of the mandible creates this defect, as it leads to the tongue being displaced toward the posterior region, which prevents the posterior

**Associated anomalies:** The Robin anomaly is found as an isolated lesion in 39% of all patients. In 36%, one or more associated anomalies are present. In 25% of patients, a known syndrome

Robin anomaly is to be suspected when polyhydramnios is associated with micrognathia (**Figure 18**). Congenital heart disease occurs in 10% of affected neonates, so fetal echocardiog-

**Prognosis:** The Robin anomaly is a neonatal emergency in many cases. Glossoptosis may lead

It is mandatory that a pediatrician be present in the delivery room and be prepared to intubate

**Definition:** Otocephaly is a grotesque anomaly, characterized by the absence or hypoplasia of the mandible, proximity of the temporal bones, and abnormal horizontal position of the ears. This malformation is considered to be the result of an improper development of the mandible, probably caused by a defect in the migration of the neural crest cells. The ears position

must be available to intubate of the infant.

**7. Abnormalities of the mandible**

cleft palate or a high arched palate.

**Incidence:** The frequency is 1:30,000 [50].

nized genetic and nongenetic syndromes [51].

palatine processes to close as they should in a normal situation [52].

**7.1. Robin anomalad**

is found.

**7.2. Otocephaly**

raphy is recommended [53].

to the obstruction of the airways and suffocation.

the infant. Karyotype should be considered [54].

**Diagnosis:** The defect, involving both the upper lip and the palate, is better seen in axial scans of the palate (**Figure 17**). A useful hint in this process is the visualization of the tongue in a position within the oral cavity, which is higher than normal. The sonographer should be alerted to a possible pitfall in the diagnosis of MCL because sometimes the defect may be masked by the tongue, giving a false impression of an intact palate [41].

**Prognosis and obstetrical management:** Prognosis depends entirely on the association with other anomalies. MCL syndrome is associated in 80% of cases with normal intelligence. Radical cosmetic surgery is required. If alobar holoprosencephaly present, it is uniformly lethal [42].
