*2.1.6. Cataracts*

**Associated abnormalities:** Not associated with chromosomal or other abnormalities.

third semester.

*2.1.5. Cyclopia*

(**Figure 12**), [14, 15].

They resolve spontaneously in 78% of the cases by 3 months, 91% by 6 months, or during the

**Definition:** Cyclopia is another type of anomaly, in which the fetus has only one single orbital fossa, with bulbs, eyelids and lacrimal apparatus fused to a variable degree. In many cases, there is one single eye or one partially divided eye, in a single orbit and arhinia with proboscis

**Incidence:** Cyclopia results from the incomplete cleavage of the prosencephalon into right and left hemispheres, a process which should be occurring between the 18th and the 28th day of pregnancy, and it is a lethal human malformation, relatively complex, but also quite rare.

**Figure 12.** A. Axial and sagittal scans of a fetus at 15 weeks of gestation show cyclopia and proboscis. B. Ethmocephaly—

Moreover, holoprosencephaly occurs in 1/16,000 live births [16].

**Figure 11.** Ultrasonographic aspect of the congenital dacryocystocele.

100 Congenital Anomalies - From the Embryo to the Neonate

Postmortem demonstrating hypotelorism and proboscis.

**Definition:** any opacity of the eye lens.

**The incidence** of cataract is as follows: 1–6 newborn infants every 10,000 births [18] for congenital cataracts in newborn babies, whereas 8.3–25% is considered to be inherited.

**Etiology:** There are several ways in which a fetus might inherit congenital cataracts: autosomal dominant, autosomal recessive, or X-linked fashion. However, the most frequent and the strongest penetration is the autosomal dominant. A series of other complications are associated with cataracts: genetic syndromes, congenital infections, metabolic disorders, and chromosomal abnormalities. The genetic cause is present in 30% of the unilateral cataracts and in 50% of the bilateral ones [19].

During the examination of the fetal cataracts solid, either some echogenic discs or echogenicity areas within an echolucent orbit will be noticed (**Figure 13**), having either unilateral or bilateral

**Figure 13.** A. Sonographic pictures of fetal cataracts at 24 weeks of gestation. Coronal views of echogenic lens. B. The postnatal aspect of the lens.

opacity of the lens. Usually, the bilateral lesions are generally syndromic, with a poor prognosis; as for unilateral lesions, they are generally linked to a fetal infection. The genetic aspect of cataracts can be linked to microphthalmia.

When the lateral palatine processes fuse with the nasal septum in the middle, the oral and the two nasal cavities are formed and separated; this takes place around the 12th week of gestation. The external nose starts at the lower portion of the frontonasal prominence, merging on both sides with the maxillary processes (**Figure 9**). If the frontonasal prominence does not fully develop, the result is partial or complete nasal aplasia. This anomaly is part of a more complex spectrum of midfacial defects, which, in the holoprosencephalic sequence, are considered to appear from a primitive defect of the prechordal mesenchyma, the tissue responsible for the

Congenital Abnormalities of the Fetal Face http://dx.doi.org/10.5772/intechopen.73072 103

**Prognosis** depends on the associated anomalies; however, isolated arhinia is not life incompatible.

**Definition:** A proboscis is a trunk-like appendage, with one or two internal openings, and it

**Incidence:** Cyclopia and cebocephaly, two of the main conditions for a proboscis to be pres-

**Embryology:** The presence of a proboscis is frequently associated with holoprosencephaly. Apparently, a primary disorder in the prechordal mesenchyma develops into an abnormal induction of the midfacial structures. If the nasal prominences develop abnormally, this may

**Pathology and associated anomalies:** Usually there is a single central opening in the proboscis, and it does not have any connection to the choanae. The ethmoid, the nasal conchae, and the nasal and lacrimal bones are absent. Usually, in cyclopia, ethmocephaly, and cebocephaly, the cleft of the lip and the palate are absent. The presence of a proboscis is seldom found in the

**Diagnosis:** The diagnosis relies on the demonstration of a trunk-like structure, usually with a single central opening either occupying the normal position of the nose or hanging above the

lead to a fusion of the olfactory placodes and to the formation of a proboscis [27].

absence of holoprosencephaly. In rare cases, a bilateral proboscis can be noticed [28].

Fetal macroglossia and microglossia are associated with several chromosomal defects.

**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

**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.

induction of both facial and cerebral structures [24, 25].

is usually associated with the absence of the nose.

ent, occur in 1:40,000 and 1:16,000 births, respectively [26].

*4.1.2. Proboscis*

orbits [29] (**Figure 8**).

**5. The tongue**

**5.1. Macroglossia**

2.5:10,000 live births) [30].

**Associated abnormalities:** there is not any high risk of chromosomal abnormalities. It is in only 10% of the cases that genetic syndromes are found, and these include the chromosomal defects. In about 10% of the cases, genetic syndromes are found, and the most common include: Walker-Warburg syndrome and chondrodysplasia punctata. Only a fifth of the congenital cataracts cases are linked to infections such as rubella, toxoplasmosis, or CMV [20].

**Investigations:** ultrasound, karyotyping, array and TORCH.

**Prognosis:** Usually good for isolated cases. Postpartum ophthalmologic surgeries have good results, which do not affect the quality of life. Prognosis is quite poor for syndromic cataract, though.
