*2.1.3. Microphthalmia/Anophthalmia*

**Definition:** Microphthalmia refers to the decreased size of the eyeball, whereas anophthalmia refers to absence of the eye. However, the pathologist should demonstrate not only the absence of the eye but also of the optic nerves, chiasma, and tracts.

**Prevalence:** While it is difficult to define, it accounts for 1 in 20,000 births, and for 4% of the cases of congenital inheritable blindness.

**Etiology/Pathology:** Microphthalmia is usually associated with other anomalies. Microphthalmia is either as a sporadic disorder or as a condition inherited with an autosomal dominant, recessive, or X-linked pattern. We use the term "cryptophthalmia" to define fused eyelids, a condition often associated [9, 10].

**Ultrasound diagnosis:** Microphthalmia and anophthalmia can be unilateral or bilateral. Diagnosis can be suspected by demonstrating an orbital diameter below the fifth percentile for gestational age (**Figure 10**). If the diagnosis is suspected, a thorough search for associated anomalies (microtia, micrognathia, syndactyly, camptodactyly, median cleft, feet abnormalities, such as rocker bottom and talipes, hemivertebrae, and congenital heart defects) should be performed.

**Figure 10.** This picture shows a case of anophthalmia, prenatal and postnatal aspects.

**Associated abnormalities:** Chromosomal defects, especially trisomy 13, are found in more than 50% of the cases. The most common include: Goldenhar syndrome (1:3000 births), Fraser syndrome, Fryns syndrome and Meckel-Gruber [9].

**Investigations:** Besides detailed ultrasound, karyotyping and array should be offered. Also, a fetal brain MRI may be useful to diagnose abnormalities (e.g., the absence of the optic nerve).

**Prognosis and obstetrical management:** Isolated: good, with an altered life quality because of the esthetic aspect of the lesion: plastic surgery might be considered. Syndromic: prognosis is very poor. Management depends on the specific syndrome [11].

**Recurrence:** Isolated: no increased risk. Part of an autosomal recessive condition: 25%.

#### *2.1.4. Dacryocystocele*

**Prognosis:** The prognosis and the management are decided on the accompanying malformations. Usually, the prognosis is poor, with high levels of mortality. In cases with normal karyotype, there is a high risk of mental retardation, depending on the degree of holoprosencephaly. **Recurrence:** Isolated: no increased risk. One percentage risk of trisomy and 13.25% risk of

**Definition:** Microphthalmia refers to the decreased size of the eyeball, whereas anophthalmia refers to absence of the eye. However, the pathologist should demonstrate not only the

**Prevalence:** While it is difficult to define, it accounts for 1 in 20,000 births, and for 4% of the

**Etiology/Pathology:** Microphthalmia is usually associated with other anomalies. Microphthalmia is either as a sporadic disorder or as a condition inherited with an autosomal dominant, recessive, or X-linked pattern. We use the term "cryptophthalmia" to define fused eyelids,

**Ultrasound diagnosis:** Microphthalmia and anophthalmia can be unilateral or bilateral. Diagnosis can be suspected by demonstrating an orbital diameter below the fifth percentile for gestational age (**Figure 10**). If the diagnosis is suspected, a thorough search for associated anomalies (microtia, micrognathia, syndactyly, camptodactyly, median cleft, feet abnormalities, such as rocker bottom and talipes, hemivertebrae, and congenital heart defects) should be performed.

being part of an autosomal recessive condition [11].

**Figure 9.** Axial scan a fetus at 14–15 weeks with alobar holoprosencephaly.

absence of the eye but also of the optic nerves, chiasma, and tracts.

*2.1.3. Microphthalmia/Anophthalmia*

98 Congenital Anomalies - From the Embryo to the Neonate

cases of congenital inheritable blindness.

a condition often associated [9, 10].

**Definition:** Dacryocystocele is a congenital obstruction of the nasolacrimal duct, resulting in cystic dilatation of the proximal part of the duct. (**Figure 11**).

**Prevalence:** 1 in 4000.

**Ultrasound diagnosis:** Cyst (75% unilateral and 25% bilateral) between the lower part of the orbit and the nose. About 90% of the cases are due to delayed canalization of the lacrimal duct beyond 32 weeks gestation.

**The differential diagnosis:** includes an anterior cephalocele, hemangiomas, and dermoid cyst. Usually, hemangiomas have a solid appearance or multiple septae, and they are shown as exophytic lesions with an echogenicity, similar to the placenta. Among the complications of hemangiomas, we should include ulceration, bleeding, infection, and scar formation. The dermoid cysts have often a superolateral location. It is difficult to differentiate anterior cephaloceles from these lesions. If hydrocephaly is present, we should suspect a cephalocele [12, 13].

**The etiology** of this rare syndrome incompatible with life is still not known in detail, because most cases are sporadic, even if the implication of heterogeneous risk factors has been proven. Among risk factors, we include maternal diabetes (the only formally recognized environmental factor, with a 1% risk and a 200-fold increase in fetal holoprosencephaly), infections during pregnancy (TORCHs), active drugs during pregnancy physical agents (ultraviolet light), and chromosomal (mostly trisomy 13) and genetic causes (familial occurrences in twins and in

Congenital Abnormalities of the Fetal Face http://dx.doi.org/10.5772/intechopen.73072 101

In order to get **the differential diagnosis** of these cases, we must distinguish between ethmocephaly and cebocephaly. In other words, we must be able to trace extreme hypotelorism, arhinia and blinded proboscis located between the eyes as opposed to hypotelorism and a single nostril nose without midline cleft. In case the image shows united palatine and lacrimal bones, as well as no sign of nasal bones, maxilla and nasal septum, then the diagnosis is

**The incidence** of cataract is as follows: 1–6 newborn infants every 10,000 births [18] for con-

**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

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

genital cataracts in newborn babies, whereas 8.3–25% is considered to be inherited.

consanguineous marriages [17].

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

50% of the bilateral ones [19].

postnatal aspect of the lens.

ethmocephaly [15].

*2.1.6. Cataracts*

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

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

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