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CASE REPORT
a
Department of Otorhinolaryngology, Medical University Pleven, St. Kliment Ohridski Str. Nr. 1,
5800 Pleven, Bulgaria
b
Clinic of Otorhinolaryngology, Medical Faculty, Thracian University Stara Zagora, Bulgaria
c
Plastic and Craniofacial Clinic, Medical University Plovdiv, Bulgaria
d
Department of Plastic Surgery, University Hospital Lille, France
e
Department of Medical Genetics, Medical University Pleven, Bulgaria
f
Clinic of Neonatology, Medical University Pleven, Bulgaria
Received 25 March 2007; received in revised form 19 July 2007; accepted 19 July 2007
Available online 17 September 2007
KEYWORDS Summary We report about a boy with congenital total arhinia and coloboma of the
Congenital total iris. The newborn had complete absence of external nose, nasal and paranasal
arhinia; cavities, with that area being flat with some elevation and firm on palpation.
External nose; Congenital arhinia is a rare developmental abnormality characterised by lack of
Nasal and paranasal the formation of external and internal nasal structures. Since there were no life-
cavities; threatening complications a tracheotomy was not performed on this newborn. Airway
Newborn infant; support with oropharyngeal tube was made and the feeding of the child was through
Abnormalities and an orogastral tube. The child learned to breathe and to eat through the mouth and at
anomalies age of 3 years a reconstruction of the external nose was performed. Description of the
treatment, embryological aspect and a literature review is made to suggest guidelines
for the management of such cases.
# 2007 Elsevier Ireland Ltd. All rights reserved.
1871-4048/$ see front matter # 2007 Elsevier Ireland Ltd. All rights reserved.
doi:10.1016/j.pedex.2007.07.002
A case of congenital total arhinia 239
[7]. By the 9th week of life, the cartilaginous nasal ing communication between the nasal and buccal
septum, which results from persistence of neural cavities. The primary choanae which are formed as
crest cells between the nasal cavities, directly over- the nasal cavities canalise, are promptly filled by
lies the buccal cavity [7]. The palatal shelves of the epithelial plugs. These plugs eventually resorb to
maxillae migrate medially as the septum migrates form the secondary (permanent) choanae and estab-
inferiorly. By the 10th week of life, the palatal shelves lish the patency of the nasal cavities [7]. It has been
and the inferior septum fuse to form the secondary traditionally accepted that the epithelial plugs are
palate [5]. At this point, the posterior nasal cavities present until the 24th week of life [5]. However, other
are separated from the buccal cavity by the bucco- evidence suggests that these plugs may actually
nasal membrane. This membrane ruptures, establish- resorb as early as the 15th week of life [7].
References
[1] T.L. Tewfik, A.S. Fahad, A. Yoskovitch. Congenital malforma-
tions, nose, eMedicine: http://www.emedicine.com/ENT/
topic320.html (last updated: June 12, 2006).
[2] N.N. Mathur, N.K. Dubey, S. Kumar, R. Bothra, A. Chandha,
Arhinia, Int. J. Pediatr. Otorhinolaryngol. 69 (1) (2005) 9799.
[3] V.S. Albernaz, M. Castillo, S.K. Mukherji, I.H. Ihmedeidan,
Congenital arhinia, Am. J. Neuroradiol. 17 (7) (1996) 1312
1314.
[4] D. Cohen, K. Groiten, Arhinia revisited, Rhinology 25 (1987)
Fig. 7 Postoperative photograph. 237242.
242 T. Marinov et al.
[5] K.J. Lee, Embryology of Clefts and Pouches: Essential Oto- [11] R.R. Cole, C.M. Myer, G.O. Bratcher, Congenital absence of
laryngology Head and Neck Surgery, 3rd ed., Medical Exam- the nose: a case report, J. Pediatr. Otorhinolaryngol. 17
ination Publishing, New York, NY, 1983, 304-6. (1989) 171177.
[6] M. Castillo, Congenital abnormalities of the nose: CTand MRI [12] M. Hansen, M.J. Lucarelli, D.A. Whiteman, J.B. Mulliken,
findings, Am. J. Roentgenol. 162 (1994) 12111217. Treacher Collins syndrome: phenotypic variability in a family
[7] Y. Nishimura, Embryological study of nasal cavity develop- including an infant with arhinia and uveal colobomas, Am. J.
ment in human embryos with reference to congenital nostril Med. Genet. 6 (1) (1996) 7174.
atresia, Acta Anal. (Basel) 147 (1993) 140144. [13] J.A. Feledy, C.M. Goodman, T. Taylor, S. Stal, B. Smith, I.
[8] M.M. Nothen, G. Knopile, H.J. Fodish, K. Zerres, Steinfeld Hollier, Vertical facial distraction in the treatment of arhi-
syndrome: report of a second family and further delineation nia, Plast. Reconstr. Surg. 113 (7) (2004) 20612066.
of a rare autosomal dominant disorder, Am. J. Med. Genet. [14] L. McGlone, Congenital arhinia, J. Paediatr. Child Health 39
46 (1993) 467470. (6) (2003) 474476.
[9] W. Muhlbauer, A. Schmirt, J. Fairley, Simultaneous construc- [15] O.E. Olsen, K. Gjeiiand, H. Reigstad, K. Rosendahl, Con-
tion of an internal and external nose in an infant with genital absence of the nose: a case report and literature
arhinia, Plast. Reconstr. Surg. 91 (1993) 720725. review, Pediatr. Radiol. 31 (4) (2001) 225232.
[10] A. Weinberg, A. Neuman, P. Benmeir, S. Lusthaus, M.R. Exler, [16] Y. Anastassov, Congenital faces anomalies, Plovdiv (2006)
A rare case of arhinia with severe airway obstruction: case 25.
report and review of the literature, Plast. Reconstr. Surg. 91 [17] R. Meyer, Total external and internal construction in arhinia,
(1993) 146149. Plast. Reconstr. Surg. 99 (2) (1997) 534542.