**5.1. Macroglossia**

**Prevalence:** Depends on the underlying disorder (present in 97.5% of Beckwith-Wiedemann syndrome cases: incidence 0.73:10,000 live births, congenital hypothyroidism: incidence 2.5:10,000 live births) [30].

**Etiology**: If it is isolated, it is usually sporadic and it relates to the underlying disorder; there have been only two families with autosomal dominant transmission.

**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 tongue past the lower lip.

**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].

> 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

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

Congenital Abnormalities of the Fetal Face http://dx.doi.org/10.5772/intechopen.73072 105

**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

**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

side) and bilateral in 25% [1, 32].

palate.

present in less than 1% of clefting abnormalities [33].

palate problems also include deformities of the nasal cavities [33].
