**7.2. Otocephaly**

**Definition:** Otocephaly is a grotesque anomaly, characterized by the absence or hypoplasia of the mandible, proximity of the temporal bones, and abnormal horizontal position of the ears. This malformation is considered to be the result of an improper development of the mandible, probably caused by a defect in the migration of the neural crest cells. The ears position

**8.1. Micrognathia-retrognathia**

obstructing small oral cavity).

aly, the survival rate is good.

**Author details**

Maria Șorop-Florea<sup>1</sup>

Alina Veduța<sup>5</sup>

Lucian George Zorilă<sup>1</sup>

Babeș" Timișoara, Romania

Davila" Bucharest, Romania

aly, Treacher Collins syndrome, otocephaly [59].

in the delivery room and be prepared to intubate the neonate.

, Roxana-Cristina Dragușin<sup>1</sup>

1 Department of Obstetrics and Gynecology, Prenatal Diagnostic Unit, University Emergency County Hospital, University of Medicine and Pharmacy Craiova, Romania

2 Department of Anatomy, University of Medicine and Pharmacy Craiova, Romania

3 Department of Obstetrics and Gynecology, University of Medicine and Pharmacy "Victor

4 Department of Pathophysiology, University of Medicine and Pharmacy Craiova, Romania

5 Department of Obstetrics and Gynecology, University of Medicine and Pharmacy "Carol

, Cristian Marinaș<sup>2</sup>

\*Address all correspondence to: dominic.iliescu@yahoo.com

, Dominic Gabriel Iliescu<sup>1</sup>

**Ultrasound diagnosis:** Subjective finding of prominent upper lip and receding chin in the mid-sagittal view of the face (**Figure 18**). These findings might be due to micrognathia (short mandible) or retrognathia (backward displacement of the mandible). Severe micrognathia is associated with polyhydramnios (>25 weeks gestation), due to glossoptosis (normal tongue

**Associated abnormalities:** Chromosomal abnormalities, mainly trisomy 18 and triploidy, are found in about 30% of cases. Any one of >50 genetic syndromes are found in most fetuses. Micrognathia is usually associated with >50 genetic syndromes, including Pierre-Robin anom-

**Delivery:** In hospital with facilities for neonatal intensive care, while a pediatrician is present

**Prognosis:** Neonatal mortality >80% due to associated abnormalities. In Pierre–Robin anom-

**Recurrence:** Genetic syndromes: 25–50%. Trisomies: 1%. Isolated: no increased risk of recurrence.

, Ciprian Laurențiu Pătru<sup>1</sup>

, Virgiliu-Bogdan Șorop<sup>3</sup>

\* and Nicolae Cernea1

,

Congenital Abnormalities of the Fetal Face http://dx.doi.org/10.5772/intechopen.73072 111

, Cristian Neamțu<sup>4</sup>

,

**Investigations:** ultrasound including echocardiography, karyotyping and array.

**Follow up:** Ultrasound scans every 4 weeks to monitor growth and amniotic fluid.

Prevalence: 1: 1500 births.

**Figure 18.** Sagittal scan a fetus at 13 weeks of gestation shows prominent forehead and retrognathia (polyploidy).

themselves horizontally, with the lobules closer to the midline, most certainly because of either absence or extreme hypoplasia of the mandible (**Figure 8**).

The anatomic lesions range from ears closely opposed to the midline (synotia), agnathia, absence of the mouth to varying degrees of micrognathia and low set ears (melotia).

Otocephaly may be part of very severe malformation complexes, such as conjoined twins and holoprosencephaly [55].

**Associated anomalies:** Holoprosencephaly, neural tube defects, cephaloceles, midline proboscis, hypoplastic tongue, tracheoesophageal fistula, cardiac anomalies, and adrenal hypoplasia [56].

**Diagnosis:** This anomaly is to be suspected when the jaw cannot be visualized and the ears are noticed in a very low position. Fetuses with extremely severe anomalies, such as anencephaly, holoprosencephaly, and cephaloceles, also present this defect. In cases of milder anomalies, it is difficult to distinguish the otocephaly from other conditions characterized by very low set ears, for instance Treacher Collins syndrome, during a prenatal ultrasound examination [57, 58].

**Prognosis and obstetrical management:** This condition is incompatible with life. Pregnancy termination could be offered any time in a pregnancy when a confident diagnosis is made [57].
