<div>Congenital Hyporhinia with Associated Malformations: Case report of a
rare Congenital Anomaly</div><div><div><b>Kenneth Mlay<sup>1 2</sup>, Desderius
Chussi<sup>1 2</sup>, Philbert Mtenga<sup>1 2</sup>, Peter
Shija<sup>1 2</sup>, Angela Msele<sup>1 2 </sup></b></div></div><div>Kilimanjaro Christian Medical Centre(KCMC), Moshi,Tanzania</div><div>Department of Otorhinolaryngology, Head and Neck surgery, Kilimanjaro
Christian Medical University College (KCMUCo), Moshi, Tanzania</div><div>Corresponding Author:</div><div>Kenneth Mlay, Department of Otorhinolaryngology, Kilimanjaro Christian
Medical Centre,</div><div>PO Box 3010, Moshi, Tanzania.
Email:mlaykenneth43@gmail.com</div><div><div>Abstract</div></div><div>Congenital hyporhinia, also known as partial arhinia, is a very rare
congenital abnormality of nasal embryogenesis with unknown etiology. It
is commonly associated with other craniofacial anomalies which are
thought to be caused by an absent or rudimentary nose. A 3 hours old
neonate presented to our facility with hypoplastic nasal pyramid,
hypertelorism, microcephaly, and micrognathia, A case of congenital
hyporhinia with associated anomalies is presented and the embryology and
literature review are discussed.</div><div>Introduction</div><div><div>Congenital partial arhinia or hyporhinia is very uncommon congenital
nasal anomaly. Less than 40 cases of congenital arhinia have been
reported in the available literatures, most of them defined as complete
arhinia and only four cases were congenital
hyporhinia<sup>1</sup>The cause is not clearly known and most cases are sporadic, but there
are few familial cases which have been reported <sup>2</sup>This
pathology is usually found associated with other malformations affecting
central nervous system, craniofacial, ear defects, and palatal clefts.
Airway, feeding and phonetic problems are usually accompanying this
pathology in children<sup>3</sup>High mortality rate is commonly associated with this congenital
malformation. We report an extremely rare case of a congenital absence
of the heminose (partial arhinia) in a 3-hrs-old girl with other
associated anomalies. To the best of our knowledge this is among the few
cases of heminose agenesis with associated malformations to be reported
in the carefully reviewed literatures.</div></div><div>Case history</div><div>Attention of otorhinolaryngologist was drawn to review a 2 hrs old full
term female neonate born from 17 years prime gravid, presented with
nasal malformation, respiratory distress and bluish coloration,
delivered vaginally with APGAR score 5 and 6 at 1<sup>st</sup>and 5<sup>th</sup> minute at a GA 36 weeks. Pregnancy was
supervised with reported 3 antenatal visits, screened for malaria,
syphilis and HIV which was negative. She received all important
supplements and no complications or medical conditions brought into
attention throughout pregnancy. Father 22 years and were not
consanguineously married, no familial history of congenital
malformations. Mother had no history of ingestion of any traditional
medicines or exposure to radiation during her pregnancy; she does not
smoke or drink alcohol and has never abused drugs.</div><div>Examination revealed birth weight of 3.2 kg with microcephaly. Had
single nostril with remnants of alar cartilage barely palpable and a
centrally placed single stenotic anterior nasal nare with pin point
perforation. Columella, nasal septum and the philtrium were absent. Also
she had microcephaly, high arched palate and hypotelorism (Fig. 1)</div><div>Initial stabilization was provided by maintenance of oral airway, and
oxygenation. Trial to insert nasal gastric tube through the single
nostril done which revealed anterior nare leading to 4mm deep single
nasal cavity with atretic posterior choanae. There was ongoing
discussion about stent insertion and tracheostomy, since some family
members were hesitating for surgical intervention. Echocardiography was
done and did not reveal any abnormality, Chromosomal analysis to
delineate extent and cause of malformation was not done. Non-contrast
computerized tomography scan of the brain (Fig. 2) revealed head and
nose to be small with a cephalohematoma in the vertex and an intranasal
soft tissue density lesion blocking the entrance measuring approximately
10 × 8 mm. Absence of the corpus callosum and septum pellucidum with a
resulting monoventricle formed from the lateral ventricles. And
meanwhile the baby continued to be nursed in neonatal ward she succumbed
to death 6 days post admission due to severe respiratory failure</div>