**Facial cleft**

**Synonyms:** The Cleft lip and the cleft palate.

**Definition:** This term refers to a wide spectrum of lateral clefting defects, usually involving the upper lip (**Figure 14**), the palate (**Figure 15**) or both.

**Incidence:** Facial clefting is the second most common congenital malformation, around 13% of all anomalies. It is usually encountered in 1 in 1000 live births; however, it can be higher for fetuses, many of them having other malformations as well. The occurrence of the cleft palate is 1 of 2500 white births, cleft lip being more common to boys, and cleft palate being more

**Figure 14.** 2D and 3D ultrasonographic pictures of cleft lip.

**Pathogenesis:** In cases of Beckwith-Wiedemann syndrome, it is part of the generalized visceromegaly probably secondary to fetal hyperinsulinism. The most common cause of Beckwith-Wiedemann syndrome is the uniparental paternal disomy, a result which was found using 11p15.5 markers. It is the same region in which the code for insulin-like hormones is found [30]. **Diagnosis:** Considering the imaginary line between the mandible and the maxilla on the sagittal scanning plane, the diagnosis is confirmed by the protruding tip of the tongue past that line; if we consider the axial scan, the diagnosis is confirmed by the protruding tip of the

**Associated anomalies:** It is diagnosed by prenatal ultrasound in cases of Beckwith-Wiedemann syndrome, in association with hydramnios (due to impaired fetal swallowing and possibly to increased urine production), omphalocele, nephromegaly, gigantism (sometimes hemihypertrophy), hepatomegaly, genital anomalies, cystic adrenal glands, and heart defects. In the absence of an omphalocele, a careful search for markers of trisomy 21 is indicated [31].

**Definition:** This term refers to a wide spectrum of lateral clefting defects, usually involving

**Incidence:** Facial clefting is the second most common congenital malformation, around 13% of all anomalies. It is usually encountered in 1 in 1000 live births; however, it can be higher for fetuses, many of them having other malformations as well. The occurrence of the cleft palate is 1 of 2500 white births, cleft lip being more common to boys, and cleft palate being more

tongue past the lower lip.

**Facial cleft**

**6. Anomalies of the lip and palate**

104 Congenital Anomalies - From the Embryo to the Neonate

**Synonyms:** The Cleft lip and the cleft palate.

**Figure 14.** 2D and 3D ultrasonographic pictures of cleft lip.

the upper lip (**Figure 14**), the palate (**Figure 15**) or both.

**Figure 15.** A. Sonographic pictures of the bilateral cleft palate (22 weeks of gestation). B. The postnatal aspect of the cleft palate.

common to girls. In 50% of cases, both the lip and palate are affected, in 25% only the lip and in 25% only the palate. The condition is unilateral in 75% of cases (more common on the left side) and bilateral in 25% [1, 32].

**Etiology:** The cleft lip is one or more splits (clefts) in the upper lip, ranging from a small indentation in the lip to a split in the lip, which may extend up into one or both nostrils. In the clear majority of patients, the cleft lip (CL) and the cleft palate (CP) have a multifactorial etiology, including genetic and environmental factors. CL (with or without CP) and isolated CP are two different anomalies. CL-CP and isolated CP can be noticed as a component of a welldefined syndrome in 3% of the cases (syndromic) and in 97% of cases (nonsyndromic). CL-CP can develop either as a result of a multifactorial defect or the combination of an autosomal dominant with incomplete expressivity and penetrance (25%) or a sporadic disorder (75%). If the affected parent is the mother, the recurrence risk is decreased, and if it is the father, the recurrence risk is increased. The opposite is true for CL-CP. Chromosomal abnormalities are present in less than 1% of clefting abnormalities [33].

**Embryology:** The cleft lip results from the persistence of the grooves between the frontonasal, maxillary, and mandibular prominences and develops in about the 6th to 8th week of gestation, when the structures of the upper jaw do not fuse properly and the upper lip does not completely merge. The formation of the cleft is due to the collapse of the mesenchymal tissue under the groove [12]. At times, usually between the 7th and the 12th week of gestation, the cleft palate bones and tissues do not join totally during fetal growth. This leads to the nasal cavity, palate and upper teeth to be affected by the roof of the mouth that remains opened. The cleft palate varies in severity and type according to the place on the palate where the cleft occurs and whether the layers of the palate are affected completely. Sometimes, if some tissues cover the cleft, a milder form of cleft palate will not be visible. A more severe form of the cleft palate, the complete one, involves tissues from all layers of the soft palate, encompasses the hard palate as well, and it might continue to the lip and nose. From time to time, the cleft palate problems also include deformities of the nasal cavities [33].

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

**Prognosis:** If the defects are minimal, as is the case with the lineal indentations of the lips or submucosal cleft of the soft palate, surgical correction may not be required. If the defects are larger and cause esthetic, swallowing, and respiratory problems, then surgical correction is a must, and recent advances in surgical techniques have had good results. Anyhow, the prog-

Congenital Abnormalities of the Fetal Face http://dx.doi.org/10.5772/intechopen.73072 107

The advisability of karyotype is controversial due to the low incidence of chromosomal anomalies in clefting defect. Fetuses should be delivered in a tertiary center because of the possibil-

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

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

**Definition:** A quadrangular or triangular median defect of the upper lip, which could extend

**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

nosis depends primarily on the presence and type of associated anomalies [37].

ity of respiratory and feeding problems.

to the posterior of the nose (**Figure 17**) [38].

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

**6.1. Median cleft lip**

**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 may be helpful [35].

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

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

**Prognosis:** If the defects are minimal, as is the case with the lineal indentations of the lips or submucosal cleft of the soft palate, surgical correction may not be required. If the defects are larger and cause esthetic, swallowing, and respiratory problems, then surgical correction is a must, and recent advances in surgical techniques have had good results. Anyhow, the prognosis depends primarily on the presence and type of associated anomalies [37].

The advisability of karyotype is controversial due to the low incidence of chromosomal anomalies in clefting defect. Fetuses should be delivered in a tertiary center because of the possibility of respiratory and feeding problems.
