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A Rare Congenital Facial Abnormality: Complete Arhinia
Congenital arhinia is a potentially life-threatening congenital malformation characterized by total absence of the external nose, nasal cavities, and olfactory apparatus. It is a condition that is also often associated with other facial abnormalities (hypotelorism, microphthalmia, blepharophimosis, facial cleft, encephalocele, and other midline defects).
Here, we aimed to present the appearance of a congenital arhinia case which is so rare and discuss about the challenges of reconstruction options. The patient with complete arhinia was born at 39 weeks of gestation via vaginal delivery without any complication. There was no history of prenatal, familial, consanguinity, and drug complications during pregnancy. He had no respiratory disorder. The pathogenesis of the patient is not known. A few factors are responsible for the development of the disease: (1) a developmental defect of the medial and lateral nasal processes, (2) early fusion of the medial nasal processes, and (3) the insufficient resorption of epithelial plugs. Although it is known that congenital arhinia occurs sporadically, there are some reported familial cases in the literature. In addition, there is no defined genetic mutation which is associated with congenital arhinia in the literature. Chromosomal analysis is generally normal in these patients. Cleft palate, hypertelorism, umbilical hernia, hypospadias, syndactyly, central nervous system anomalies, and the lack of paranasal sinuses can be seen with this disease ([Fig. 1]).
Such cases have some challenges. First, the diagnosis of it is very hard during the prenatal period as most of the cases are diagnosed at birth. The acute problems are serious airway obstruction and feeding difficulties. Surgical treatment needs a multidisciplinary approach which involves a neonatologist, a plastic surgeon, and a pediatrician. In the literature, we found that three surgical approaches are available for the treatment of complete arhinia: (1) early reconstruction (neonatal); (2) preschool or school-age reconstruction; and (3) adolescence period reconstruction (after perfect nasal and maxillofacial development). We think that the most appropriate time for nasal reconstruction is after the completion of maxillofacial development perfectly, although the psychological problems can be seen at school age. Due to insufficient reconstruction before complete development, it may decrease a good chance of a good reconstruction in the late period because of both donor and recipient area problems.
In conclusion, in arhinia cases the main purpose of the first treatment is to provide a safe airway and nutrition. The patients may adapt well for the upper airway obstruction in the early period. We think that the reconstruction should be delayed to have better outcomes due to the stated reasons.
04 September 2020 (online)
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