Volume 2, Issue 3 , Pages 158-160, September 2007
Congenital arhinia
Article Outline
Summary
Congenital absence of the nose, named as congenital arhinia (CA), is a rare disorder of embryogenesis. We reported a baby with arhinia.
Congenital absence of the nose, named as congenital arhinia (CA), is a rare disorder of embryogenesis. Twenty-eight cases have been reported since 1931 in literature [1]. The etiology is still unknown. Most of the cases are sporadic but also familial cases have been reported [2].
1. Case report
The female, term baby was the second child of the unrelated parents. The mother had an uneventful pregnancy and antenatal ultrasound was normal. The birth weight was 3300
g (50–75 percentile), height was 52cm (75–90 percentile) and head circumference was 35cm (75–90 percentile). On physical examination the baby had no nasal nostrils. Nasal prominence was absent and there was a palpable rudimentary nasal bone at the nasal radix area. She had hypertelorism and high palatal arch (Fig. 1). The rest of the physical examination was normal. She had cyanosis and respiratory distress at admission so she was intubated. On the second day of admission she was extubated and feeding via orogastric tube, was started. 3-D multidetector maxillofacial computerized tomography showed rudimentary nasal bone and open metopic suture (Fig. 2). Underdevelopment of nasal cartilage, nasal cavity and paranasal sinuses were also revealed (Fig. 3). Abdominal and cranial ultrasound examinations were normal. Secundum atrial septal defect was shown on echocardiography. The baby adapted to breath via mouth during the NICU stay so no surgical intervention was required for breathing. On follow up, she started breast feeding. She was discharged when she was 34 days old and had no respiratory distress and feeding difficulties.
Fig. 1.
Picture of the baby.
Fig. 2.
3-D multidetector maxillofacial CT (anteroposterior view) showing defective nasal passage that continues with open metopic suture (white arrow: metopic suture).
Fig. 3.
3-D multidetector maxillofacial CT (sagittal view) showing rudimentary nasal bone.
2. Discussion
The nose develops from the first pair of pharyngeal arches between 3rd and 10th week of intrauterine life. A defect in the pathway of the complex embryological development is thought to result in congenital arhinia (CA). The lack of invagination of the nasal placodes, a premature fusion of the medial nasal processes, failure of resorption of the nasal epithelial plugs and abnormal migration of neural crest cells are the theories to explain the pathogenesis of CA [3].
Congenital arhinia has no specific gender preponderance. Most cases are sporadic but familial cases have also been reported. Although the karyotype of the patients with CA are commonly normal, abnormal genetic analysis results like mosaic trisomy 9, inversion of chromosome 9 and de novo reciprocal translocation t(3;12) (q13.2;p11.2) has been reported in literature [4], [5].
There is only one case of antenatally diagnosed CA (at the 29 weeks’ gestation). In some cases polyhydramnios, diabetes mellitus and hyperemesis has been reported in the maternal history. Most of the pregnancies were uneventful like our patient [6].
The babies may have associated anomalies in the craniofacial area, central nervous system, extremities and other midline defects. Radiological screening is necessary to evaluate other systems and for planning the surgical procedure [3]. No other congenital defect except ASD was observed in our patient.
Surgical management of CA is controversial. In early days of life, tracheostomy had been performed for respiratory distress in the literature. Reconstructive surgery was postponed until preschool age in most cases [7]. Our patient did not require tracheostomy, so the surgery was postponed.
The absence of nose is a rare disorder. The association with other abnormalities is important for the prognosis. In our patient the only isolated extra abnormality was secundum ASD, which is common in the normal population of childhood period (5–10%). The long-term outcomes of these patients have not been reported. We had postponed the elective reconstructive surgery until preschool age. Parents were trained for feeding and preventing apnea, under close supervision of our neonatal care staff. Also we succeed in feeding, gaining weight and breathing via mouth. We think that the reconstructive nasal surgery is required for the cosmetic appearance because both the child and the family may have psychological problems.
References
- . Congenital arhinia. J. Paediatr. Child Health. 2003;39:474–476
- . Congenital arhinia with de novo reciprocal translocation, t(3;12) (q13,2;p11. 2). Am. J. Med. Genet. 2004;130A:200–203
- . Congenital absence of the nose: a case report and literature review. Pediatr. Radiol. 2001;31:225–232
- . Brief clinical report: mosaic trisomy 9 syndrome with unusual phenotype. Am. J. Med. Genet. 1985;22:237–241
- . Arhinia revisited. Rhinology. 1987;25:237–244
- . Prenatal diagnosis of total arhinia. Ultrasound Obstet. Gynecol. 2000;15:259–261
- . Arhinia Int. J. Pediatr. Otorhinol. 2005;69:97–99
PII: S1871-4048(07)00032-9
doi:10.1016/j.pedex.2007.04.006
© 2007 Elsevier Ireland Ltd. All rights reserved.
Volume 2, Issue 3 , Pages 158-160, September 2007
