**3. Incidence**

Addressing the diagnosis of a dysmorphic newborn is similar to the diagnosis of systemic diseases – it relies on analyzing the family history and on performing a meticulous examina-

The steps to be taken after identifying a neonatal dysmorphism are to confirm the diagnosis through cytogenetic testing via molecular techniques (in order to confirm/exclude a genetic

After many years spent 'looking after little patients', we hereby discuss a number of anomalies and abnormal physical characteristics, isolated or associated, together with the genetic

Since the neonatologists are the first to evaluate the neonates, they must be familiar with various major and minor dysmorphisms. The diagnosis of a syndrome depends on good clinical skills, knowledge of phenotypic features of various syndromes and the experience of the examiner.

Dysmorphism [1] is a morphological anomaly of a structure, a deviation from the norm, and can be classified as major or minor. Major abnormalities may be surgical, medical or cosmetic, and they may be markers for other malformations too. Minor anomalies do not have significant surgical or cosmetic importance, though many genetic syndromes can be recognized

Anomalies may occur through three mechanisms [2], each having different implications for

• *The malformative mechanism* causes structural defects, resulting from an inherently abnormal development process, a primary error in morphogenesis. Malformations include congenital heart, lips, and palate abnormalities. These types of malformations are most

○ The malformation sequence results from a single primary malformation, as is the case

○ Malformative syndrome results from several different biological errors during

• *The deforming mechanism* is an anomaly resulting from the action of prenatal mechanical forces on normal fetal structures. The femur, the fingers (that become overlapped) and the head (that grows into an unusual shape) can be affected. Deformations are rarely genetic,

• *The disruptive mechanism* causes structural defects resulting from the destruction or interruption of normal intrinsic tissue, such as limbs reduction in amniotic band sequence or certain types of intestinal atresia due to vascular insufficiency [3]. The anomalies are rarely

caused by a genetic condition and unlikely to occur in a future pregnancy.

commonly associated with a genetic disease or a genetic predisposition.

tion of signs and expressions, in an effort to identify a syndrome [1].

syndromes in which they can be included.

504 Congenital Anomalies - From the Embryo to the Neonate

based on basis of minor anomalies.

**2. Mechanisms of occurrence**

with lumbar neural tube defects.

and the recurrence risk is usually low.

morphogenesis.

the diagnosis:

etiology), followed by family counseling by the neonatologist-geneticist team.

The incidence of congenital abnormalities is approximately 10% of total admissions in neonatal intensive care units (NICUs). Many of them have underlying genetic syndromes. Worldwide, around 7.9 million children (6% of births worldwide) are born with congenital anomalies [4] annually.

Minor anomalies, the subject of this chapter, appear to be isolated more frequently. About 15% of neonates are diagnosed with one minor anomaly (**Table 1**). About 71% of them are found in head, neck and hands. Among neonates diagnosed with an isolated minor anomaly, 3% have a major associated abnormality.



**4. Classification**

and gastrointestinal.

*4.1.2. Aplasia cutis congenita*

about 3 out of 10,000 births [8].

**Figure 1.** Aplasia cutis congenita.

lies [6].

**4.1. Minor head and throat anomalies**

Asymmetric crying facies (ACF) is a minor abnormality, characterized by lowering the corner of the mouth on the unaffected side when crying or sketching a grimace. This is caused by the congenital absence of the anguli oris depressant muscle. The ACF neonates show both nasolabial folds with normal, symmetrical depth and do have the normal ability to lift their forehead and close both eyes. This anomaly must be distinguished from facial nerve paralysis, which is less common [5]. In 20–70% of cases, ACF is associated with other congenital abnormalities, the most common being head/neck, cardiovascular, musculoskeletal, genitourinary

The Neonate with Minor Dysmorphisms http://dx.doi.org/10.5772/intechopen.71902 507

Once this anomaly has been identified, genetic testing is recommended (FISH test or chromosomal microarray comparative genomic hybridization) because ACF is especially associated with 22q11 deletion syndrome (also known as velocardiofacial or DiGeorge syndrome). In this syndrome, the facial dysmorphism coexist with structural heart anomalies, long fingers/limbs, thymus aplasia/hypoplasia and kidney abnormalities. The postnatal follow-up protocol recommends close monitoring of growth and development, evaluation of thyroid and parathyroid function, immunological, hearing and ophthalmic evaluation, echocardiography, renal ultrasonography and the treatment of possibly associated anoma-

Aplasia cutis congenita (ACC) is the congenital absence of the skin, and may occur on any part of the body. It affects the scalp in 70–80% of the cases (**Figure 1**), either as solitary lesions or associated with skull and dura mater defects [2, 7]. Aplasia cutis congenita is a rare anomaly in neonates. Over 500 cases have been reported since the first description, by Cordon in 1767. Due to the unreported cases, their real incidence is unknown. An estimate of the incidence is

*4.1.1. Asymmetric crying facies*

**Table 1.** Minor anomalies seen in various systems.

0.8% of neonates have two minor anomalies associated, and 11% of them have a major associated abnormality.

The presence of three or more minor abnormalities is rare (about 0.5%), and in most cases (90%), neonates also associate a major malformation.
