Rare Association of Bilateral Anotia with Congenital Facial Palsy

Anotia is a birth defect and is associated with facial palsy and congenital heart defect as various presentation of cardiofacial syndrome. Herein we report a case of bilateral anotia and unilateral congenital facial palsy without congenital heart disease. It may occur due to single gene abnormality, teratogenic effect of maternal ingestion of thalidomide, retinoic acid, misoprostol or maternal diabetes, dietary lack of carbohydrates and folate.


Introduction
A no a or micro a, defi ned as absent or miniature external ears, is known to be a feature of cardiofacial syndrome and also seen to be associated with various other congenital anomalies like renal anomalies, short stature,small patella syndrome Unilateral atresia is more common Congenital facial palsy with bilateral ano a has not been seen so o en.It is generally considered to be either developmental or acquired in origin Developmental facial paralysis is associated with other anomalies including those of pinna and external auditory canal, ranging from mild defects to severe micro a and atresia 1 .

The Case
A late preterm male with gesta onal age to 36 weeks and four days, a product of non-consanguineous marriage was delivered normally and cried soon a er birth.His general physical examina on was conspicuous by bilateral absence of external ear which was replaced by preauricular skin tag on the right side only (Figure 1).He also had unilateral congenital facial palsy, lower motor neuron type manifested by asymmetric crying facies, absence of right nasolabial fold and inability to close right eye (Figure 2).There was no other cranial nerve palsy and rest of the neurological examina on was normal.His USG abdomen did not show any renal anomalies and ECHO was also within normal limits.MRI Brain was done to evaluate the cause for cong.facial palsy but, normal study warranted the need for HRCT Temporal bone which showed agenesis of petrous part of right sided temporal bone along with agenesis of facial and auditory nerve on right side only, non-visualiza on of bilateral external ears, both bony and car laginous components with forma on of bony bar in the expected loca on of tympanic membrane, non aera on of bilateral middle ear cavity and non pneuma za on of bilateral mastoid air cells.The bilateral middle ear ossicles were dysmorphic forming a mass with non-delinea on of normal malleus-incus anatomy.The right oval window was not visualized adequately.Bilateral internal auditory canals are symmetrical and normal in size.Mother denied any signifi cant illness like diabetes or intake of teratogenic substances like re noic acid thalidomide, misoprostol during antenatal period and there was no history sugges ve of TORCHES infec on during antenatal period.No folic acid supplementa on was taken by her during pregnancy.Hearing assesment done through BERA at the me of discharge revealed mixed type of hearing loss in right ear unlike conduc ve hearing loss alone in le ear.
Congenital facial nerve palsy is an infrequent condi on with a reported incidence of 0.8-2.1 per 1,000 live births 6 .In 78% of cases CFP is related to birth trauma.No such history was available in the index case.Other causes include, intrauterine posture, intrapartum compression, and familial and congenital aplasia of the nucleus; the last being most frequently reported for bilateral cases.There are a number of syndromes which encompass CFP as part of their symptoms, including the cardiofacial, Moebius, Poland's, and Goldenhaar's syndrome 1,7 .Some cases of CFP have been a ributed to agenesis of the petrous por on of the temporal bone, with resul ng agenesis of the facial and auditory nerves, the external ear and the mastoid region 7 .CFP may cause mul ple problems in newborn like diffi culty in nursing, eye closure, development of speech, expression of emo ons, mas ca on.Cardiofacial syndrome is a well known clinical en ty with asymmetric crying facies giving a clue to the underlying abnormali es like congenital heart disease, however, external ear anomalies are not described as a syndrome.Findings in our pa ent diff ers from the cardiofacial syndrome (asymmetric crying facies syndrome) reported by Patel 8 as well.His pa ents had congenital heart disease associated with unilateral weakness of only the lower por on of the face.The triad of ano a, facial paralysis, and congenital heart disease has been reported in associa on with the teratogenic eff ect of thalidomide and re noic acid or as a possible variant of Goldenhar syndrome.However, these associa ons were not observed in the present case.As opposed to well formed ossicles and normal BERA found by Gathwala 9 , this case had dysmorphic ossicles.
In addressing CFP, some medical professionals advise ini al surgery during preschool to avoid psychosocial problems associated with physical abnormality.However wai ng ll adolescence when facial growth is mature and child is able to understand the risks and benefi ts of surgery have merit 10 .
Muscle transplanta on for facial palsy is eff ec ve but be er results are observed in case of trauma c facial palsy 11 , in contrast facial palsy, as in the index case, carry a poor func onal outcome.Reconstruc on of auditory canal and pinna has to be done around 6 years of age when planning for muscle transplanta on surgery with facial palsy 12 .

Conclusion
Bilateral ano a is a rare congenital malforma on.Moreover the well known and commonly reported

Discussion
Micro a/ano a refers to abnormal development of external ear resul ng in deformed auricle.It ranges from mild deformity to complete agenesis of ear.Incidence is 1:10000-20000 births, most o en unilateral with right side predominance and male to female ra o is 2.5:1 associated with congenital aural atresia 2 .It is classifi ed into four types i.e.Type 1 consist of mild deformity, major structures present to some degree and no ssue needed.In Type 2, major structures present but ssue needed to correct defi cit.Type 3 has few recognizable landmarks, lobule present to some degree and Type 4 is ano a which is seen in our case 3 .Some of the syndromic associa ons 4 include congenital infec ons such as rubella, re noic acid embryopathy, otomandibulofacial dysostosis, Meir-Gorlin syndrome, thalidomide embryopathy, fetal alcohol syndrome, diabe c embryopathy/ holoprosencephaly, etc.According to retrospec ve review 5 of 118 cases of aural atresia, prevalence of ear abnormali es with facial palsy is seen in 13% of cases where as inner ear abnormali es are seen in 22% of cases.associa on of congenital heart disease with congenital facial palsy was not found in this case.The rarity of such phenomena prompted us to report the case.It was diffi cult to fi nd out the cause here, but lack of folic acid supplementa on during antenatal period can be further studied as one of the ae ology resul ng in congenital malforma ons of ear etc.

Fig 2 :Fig 1 :
Fig 2: Showing inability to close right eye and loss of nasolabial fold on right side sugges ve of facial palsy