**1. Introduction**

Dysmorphology is the branch of clinical genetics that attempts to interpret the human growth patterns and structural defects.

Often, the neonatologist has the opportunity to be the first to identify a congenital anomaly in the neonates. Thus, the presence of a neonatal dysmorphic syndrome (be it major or minor) must be shared with the parents, something that may certainly cause feelings of anxiety.

> Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. © 2018 The Author(s). Licensee IntechOpen. This chapter is distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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

Other terms used to describe the congenital anomalies are:

**3. Incidence**

anomalies [4] annually.

major associated abnormality.

**Affected segment Minor anomaly diagnosed** Head and throat • Asymmetric crying facies

Eyes • Brushfield spots

Ear • Lack of helical fold

• Aplasia cutis congenital • Mild micrognathia • Flat nasal bridge • Upturned nose • Large fontanel

• Inner epicanthal folds

• Posteriorly rotated pinna

• Small pinna • Folding of helix • Darwinian tubercle • Crushed (crinkled) ear • Asymmetric ear sizes

• Low-set ears

• Preauricular with or without auricular skin tags

• Auricular (preauricular) pit or sinus

• Telecanthus and hypertelorism • Slanting of palpebral fissures

but which do not have a predictable pattern or a unique etiology.

• Dysplasia, which is an abnormal cellular organization within a tissue, causing structural abnormalities (for example changes in bone structure and cartilage in skeletal dysplasia). • Association, which is a group of abnormalities that occurs more frequently than expected,

The Neonate with Minor Dysmorphisms http://dx.doi.org/10.5772/intechopen.71902 505

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

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

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

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 syndromes in which they can be included.

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 based on basis of minor anomalies.
