**4.1. Minor head and throat anomalies**

#### *4.1.1. Asymmetric crying facies*

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 and gastrointestinal.

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 anomalies [6].

#### *4.1.2. Aplasia cutis congenita*

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

**Figure 1.** Aplasia cutis congenita.

0.8% of neonates have two minor anomalies associated, and 11% of them have a major associ-

The presence of three or more minor abnormalities is rare (about 0.5%), and in most cases

ated abnormality.

(90%), neonates also associate a major malformation.

• Hypoplasia of labia majora

**Affected segment Minor anomaly diagnosed** Skin • Dimpling over bones

506 Congenital Anomalies - From the Embryo to the Neonate

Hand • Simian creases

• Sacral dimple • Pigmented nevi • Redundant skin • Cutis marmorata • Café au lait spot

• Bridged upper palmar creases • Clinodactyly of the fifth finger • Hyperextensibility of thumbs

• Partial cutaneous syndactyly

• Polydactyly • Short, broad thumb • Narrow, hyperconvex nails

• Hypoplastic nails • Camptodactyly • Shortened fourth digit

Leg • Partial syndactyly of second and third toes • Asymmetric toe length • Clinodactyly of second toe

> • Overlapping toes • Nail hypoplasia

Others • Mild calcaneovalgus

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

• Hydrocele • Shawl scrotum • Hypospadias

• Wide gap between hallux and second toe

• Deep plantar crease between hallux and second toe

• Capillary hemangioma (face, posterior neck) • Mongolian spots (African Americans, Asians)

• Single flexion crease of fifth digit (hypoplasia of middle phalanx)

The pathophysiological mechanism of aplasia cutis congenita is unclear; some theories suggest the involvement of factors such as obstetrical trauma, intrauterine infections with varicella zoster or herpes virus, as well as teratogenic agents, such as cocaine and methimazole [7, 9].

When this anomaly is confirmed, a series of additional investigations are required to determine if there are also other associated malformations that describe a genetic syndrome.

Adams-Oliver's syndrome includes (alongside ACC and limb defects) cutis marmorata telangiectatica congenita, central nervous system abnormalities and cardiovascular abnormalities. To diagnose this genetic syndrome, cerebral and spine (MRI) imaging, limb radiographs, echocardiography and genetic tests with genes ARHGAP31, DOCK6, RBPJ, EOGT [7, 10] sequencing are required. Adams-Oliver Syndrome can be transmitted either autosomal dominant or autosomal recessive. ACC has also been associated with trisomy 13 [11].

ACC may evolve with complications (local infection, meningitis, bleeding and superior sagittal sinus thrombosis). The mortality rate lies between 20 and 50% and depends on the size of the lesion and its association with other malformations.

It can appear as a minor and isolated abnormality, or may be severe, as part of a genetic syn-

The Neonate with Minor Dysmorphisms http://dx.doi.org/10.5772/intechopen.71902 509

Congenital mandibular hypoplasia occurs either through intrauterine deformation or malfor-

The mandible is formed from the neural crest, beginning with the onset of the 4th week of gestation, the cells migrating to the upcoming region of the head and neck and with the initiation of the formation of the gill arches. From the first branching arch, two prominences develop, the mandibular and the maxillary one. The mandibular protrusion will form the mandible, and the jaw will form the jaw bone, the zygomatic bone and the squamous part of the temporal bone. It is likely that congenital mandibular hypoplasia results from poor or insufficient development of the neural crest, or by means of altered migration process to the first branch of the gill,

The diagnosis of micrognathia in neonates requires a careful clinical evaluation, to identify other associated craniofacial abnormalities, such as cleft palate or the coexistence of other congenital anomalies. The maxillary, the zygomatic bone, the temporal bone, the cranial vault

In the clear majority of cases that include, among the first clinical signs – micrognathia, the diagnosis of genetic syndromes can be suspected on clinical examination. Subsequently, the

Approximately 60 syndromes associated with micrognathia have been described, such as [12]:

and the cervical spine represent the other anatomical regions that can be affected.

case requires confirmation by genetic testing, as in deletion syndrome 22q11 cases.

mative mechanisms, as a result of a primary intrinsic growth disorder [12, 13].

drome, frequently causing postnatal complications.

**Figure 2.** Mild micrognathia associated with retrognathia.

during the 4th week of gestation.

**Aneuploidic syndromic**

• Trisomy 9 • Trisomy 13 • Trisomy 18
