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Case Reports
. 2022 Sep;56(3):231-235.
doi: 10.4314/gmj.v56i3.14.

Congenital complete arhinia with alobar holoprosencephaly

Adwoa P Boakye-Yiadom  1 , Samuel B Nguah  1   2 , Haruna Mahama  1 , Gyikua Plange-Rhule  1   2
Affiliations
Case Reports

Congenital complete arhinia with alobar holoprosencephaly

Adwoa P Boakye-Yiadom et al. Ghana Med J. 2022 Sep.

Abstract

Congenital arhinia is a life-threatening, rare craniofacial disorder, which, when not identified and managed early can cause severe respiratory distress at birth due to upper airway obstruction. Since neonates are obligate nasal breathers, simultaneous sucking and breathing requirement in neonates with arhinia leads to respiratory distress. Inspiration and expiration through the oral passage alone may result in thoracic retraction, thereby further exacerbating respiratory distress. We report a rare case of congenital complete arhinia with alobar holoprosencephaly in a 9-month-old. With no family history of congenital malformations, maternal risk factors and uneventful pregnancy, a term female neonate was delivered vaginally without immediate post-delivery respiratory distress. Examination revealed microcephaly, absent fontanelles, fused cranial sutures and bilateral microphthalmia. Breathing was spontaneous, with no immediate signs of respiratory distress. An additional diagnosis of alobar holoprosencephaly was made after a head computed tomography (CT) scan was done. Management included the initial stabilisation phase of supplemental oxygen and an orogastric tube for feeding. The baby did not require both tracheostomy and gastrostomy tubes, as she was not in severe respiratory distress requiring a tracheostomy tube nor having difficulties feeding with the orogastric tube.

Keywords: Arhinia; Respiratory Distress; holoprosencephaly.

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Conflict of interest statement

Conflict of interest: None declared

Figures

Figure 1
Figure 1
Infant with complete arhinia. Note the flat nasal bridge and complete absence of the external nose.
Figure 2
Figure 2
Head CT scan showing posteriorly situated mal-developed mono-ventricle communicating with a dorsal cyst, absent falx, inter-hemispheric fissure and corpus callosum and fusion of the thalami.
Figure 3
Figure 3
A 3D Head and upper airway CT scan showing complete absence of the nasal bone, internal nasal structures and complete stenosis of the nasal canals.
See this image and copyright information in PMC

References

    1. Zhang Mao-mao, Hu Yang-hong, He Wei, Hu Kui-kui. “Congenital arhinia: a rare case.”. The American Journal of Case Reports. 2014;15:115. - PMC - PubMed
    1. Blair Vilray Papin, Brown James Barrett. “Nasal abnormalities, fancied and real: The reaction of the patient: Their attempted correction.”. International Journal of Orthodontia, Oral Surgery and Radiography. 1932;18(4):363–401.
    1. Gordon Christopher T, Xue Shifeng, Yigit Goekhan, Filali Hicham, Chen Kelan, Rosin Nadine, Yoshiura Kohichiro, et al. “De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.”. Nature genetics. 2017;49(2):249–255. - PubMed
    1. Raam Manu S, Solomon Benjamin D, Muenke Maximilian. “Holoprosencephaly: a guide to diagnosis and clinical management.”. Indian pediatrics. 2011;48(6):457–466. - PMC - PubMed
    1. Leroy D, Slachmuylder E, Popijn M, Cassart M, Massez A, D'Haene N, Désir J, et al. “Antenatal Diagnosis of Isolated Total Arhinia in the Second Trimester of Pregnancy.”. Open Journal of Obstetrics and Gynecology. 2016;6(07):419.

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