Congenital absence of the nose and nasal fossae

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1. Cranio-Max.-Fac.Surg. 19 (1991)

j. Cranio-Max.-Fac. Surg. 19 (1991)56-60 9 Georg Thieme Verlag Stuttgart 9 New York

Congenital Absence of the Nose and Nasal Fossae Carlos Navarro-Vila i, Gil Cuesta Matias ~, Gimeno Carlos Martinez I, Martin Juan Jose Verdaguer ~, Sanz Julio Acero l, Sher'iff Vicente Perez 2 Amparo Rodriguez 2 1Dept. of Maxillo-facial SurgeD" (Head: Prof. C. Navarro-Vila, M.D., D.M.D.) 2Neonatologieal Service (Head: Prof. Sanchey Coviella, M.D.), General Hospital Gregorio Maranon, Complutense University of Madrid, Spain Submitted 13.6. 1990; accepted 31.10. 1990

Summary We describe a case of complete nasal agenesis and absence of the nasal fossae, without alterations in the central nervous system. The physical and intellectual development of the infant to date has been absolutely normal. Opening of the nasal respiratory passage was not required in our patient as he did not show respiratory problems during deglutition. - Microphthalmia in the right eye with iridoretinal coloboma and right cryptorchidism were also noted. When the child was 9 months old a right orbital asymmetry became evident due to a growth deficit of the microphthalmic eye. This improved after placement of an expandable prosthesis in the orbit to stimulate its growth. - When the child is 4 years old, he will start to use a nasal prosthesis supported by implantology. Final reconstruction of the nasal pyramid will take place after he is 15 years of age. Key words

Introduction Among the several cases of congenital malformations of the nasal area decribed in the literature by Coats and Schnecl~ (1960), Rosen (1963), Patten (1971), Liitolf (1976), Pahner and Thompson (1976) and Sperber (1981), total absence of the nose is a very unusual m,alformation that in most cases is accompanied by serious anomalies in the central nervous system, very often incompatible with life. Gifford et al. (1972) published two cases of congenital absence of the nose and nasopharynx, performing in both cases opening of the nasal airway when the children were five and six years of age respectively. Dekaban (1959) and Kemble (1973) relate these malformations to maternal diabetes, hypertension and toxaemia of pregnancy. Cohen and Goitein (1986) published a case of arrhinia in a newborn baby with inversion of chromosome 9. Kaminker et al. (1985) found a trisomy mosaic of chromosome 9 in a boy with arrhinia. We present the case of an infant with complete nasal agenesis and absence of nasal fossae, with other mild, related malformations, but with normal intelligence. Clinical Case Our report concerns a two year old male, born after an unremarkable pregnancy. The mother was 26 years of age, healthy and primigravida. The infant presented the following congenital malformations: complete nasal agenesis, epicanthus, right microphthalmia with blepharophinmsis, coloboma of the iris of the left eye, low-set small ears and right cryptorchidism (Fig. 1). The family background did not reveal diabetes, hypertension, consanguinity, congenital malformations or other illness. There was no record of ingestion of teratogenic drugs. Gestation was 40 weeks. Birth was spontaneous, with head presentation. At birth the baby weighed 3100 grams, with OFC of 35"cms and a length of 50 cms. Apgarscores were 2/5 and 1/5 minutes, respectively. Resuscitation by endotracheal intubation was necessary with an excellent result. Haemogram, blood gases and chemistry were normal. Coagnlation and renal function examinations were also normal. Torch, HBsA~, HIV and luetic serology were

Nasal agenesis - Absence of nasal fossae - Absence of paranasal sinus - Arrhinia

negative. Neurological examination showed a mild widespread hypertonia. Transfontanel echography was normal. The karyotype was normal (46XY) as was cardiological examination. When the infant was seven days old, computerized ,axial craniofacial tomography (CAT) was carried out, whereby the midline at the level of the theoretical zone of the hard palate could be observed. Above, there was a hollow which apparently continued up to the cranial cavity, without it being possible to define the cribiform plate. There arose the question of possible herniation of an encephalomeningocele toward the theoretical nasal cavity, simply through lack of development or ethmoidal hypoplasia, with the soft tissues occupying the theoretical nasal cavity. When the infant was 15 days old, craniofacial magnetic resonance imaging was performed, which confirmed the complete agenesis of the nasal fossae, nasal bones and vomer. The rest of the examination was normal, without the existence of communication between the anterior cranial fossae and nasal cavity, eliminating the presence of an encephalomeningocele. Neither supra- or infratentorial pathological images at the level of the central nervous system were ~isualized (Fig. 2). In general, development was good. During the first weeks of life he was fed by enteral nutrition using an orogastric tube until he learned to suck. When he was one and a half months old f~ding was done through the oral cavity and when he was two months old, the orogastric tube was removed. At six months, an ophthalmological examination was reported as follows: -Eye. socket and eyelids: Internal intercanthal width 33 mm (Hyperteloric). Palpebral fissure widths of 18 mm in the right eye and 19 mm in the left. General normal conformation of the remainder. Normal movements of the eyelid with regard to frequency and opening.

Congenital Absence of the Nose and Nasal Fossae

J. Cranio-Max.-Fac. Surg. 19(1991)

57

Fig. 1 A - Frontal view at 15 days of age. B - Lateral view.

Fig. I a

Fig.2

Fig. 1 b

Craniofacial magnetic resonance image.

- Ocular extrinsic motility: Normal movements of both eyes in all directions. It cannot be stated clearly whether there are inconmitanccs in the binocular versions and separations. Right eyeball: Microphthalmic, with horizontal corneal diameter of 6 mm. Iridical inferior coloboma and infcrior chorioretinal coloboma, with falciform retinal foldings. Intraocular pressure of 12hamHg. The refraction with skiascopy cannot be determined due to retinal elevation. - Left eyeball: Horizontal corneal diameter of 10,5mm. Incomplete iridical coloboma-at seven o'clock. Slight indentation in the half crystalline at the level of the coloboma. There was no chorioretinal coloboma. The papilla, ma-

cula and rest of the fundus oculi were ophthalmologically normal. Intraocular pressure 17 mmHg. Refraction with skiascopy of +0'25 SPF;-0'75 CYLx 90 grades. -Visual potentials: Normal latency of the wave Pl00 in both eyes. Potentials diminished in the left eye. In summary, charactcristic limitations of only objective exploration and at such an early age, it can be assumed that the microphthalmic right eye and associated alterations of uvca and retina will have very limited vision whereas the left eye with minimal malformation will achieve normal vision. When the child was 9 months old orbital asymmetry caused by diminution of size in the right socket became evident. An orbital prosthesis of the sclerocorncal shell type was placed in the right socket to induce orbital growth. At 20 months, a new cranial CAT scan, revealed the foUowing malformations: hypoplasia in the right ptcrygoid process and outline of choanae (Fig. 3 a), ossification of both maxillary sinuses and absence of ethmoidal cells (Fig. 3 b); outline of turbinate bones (Fig. 3 c); absence of sphenoidal sinus, cthmoidal hypoplasia and asymmetry of both sockets (Fig. 3 d); hypoplasia of the right eyeball with atrophy of the lens and lack of differentiation of the anterior bulb (Fig. 3 e); hypoplasia of the right optic canal (Fig. 3 f) and complete absence of nasal fossae (Figs. 3b, c, d). The measurement of both bulbs shows a reduction of 2.7 mm det~h in the right socket with the same intercanthal diameter and orbital height (Fig. 4). Cephalic examination was absolutcly normal. The child, except for his first days of life did not present any respiratory problem during f~ccding. For this reason there was no surgical intervention to open the nasal airway. At present the patient is two years old and shows normal psychomotor development (Fig. 5). The most important scqucla is the amblyopia of the right eye, being normal at the bottom of the eye and vision is normal in the left eye. After the child is 4 years old, it is planned to place a nasal prosthesis which will be supported by means of implantology. The prosthesis will be changed periodically with the physical development of the boy. When hc is around

58

J. Cranio-Max.-Fac.Surg. 19 (1991)

C. Navarro-Vila et aL

/

~

9

Fig. 3 a

Fig. 3 b

Fig. 3 c

Fig. 3 d

Fig. 3 e

Fig.3f

Fig.3

Fig.4

Cranial CAT at twenty months of age. A, B and coronal cut. D, E and transverse cut.

Diagram of both orbital cavities at twenty months of age.

14-15 years old, a final nose will be constructed with an autologous osseocartilaginous framework and the soft tissues from a previously~xpanded frontal flap. Discussion and Conclusions Congenital absence of the nose (arrhinia) and nasal fossae is one of the various malformations in the middle third of

the face. Complete aplasia of the nose has been recorded on several occasions (Blair (1931), Blair and Brown (1931), Berndorfer (1962), Berger and Martin (1969), Gifford et al. (1972), Mazzola (1976), Pahner and Thompson (1976), Rontal and Duritz (1977), Cohen and Goitein (1986), Banks and Robhzson (1988) and Cole et al. (1989)). Rosen (1963) defines "Arrhinia" as the absence of the nose only, and "Total Arrhinia" the absence of the nose and olfactory system. Probst (1979) suggests the classification of the anomalies according to the type of accompanying malformations, with the division into two groups: 1-PurE forms without accompanying malformations. 2-Associated forms with other malformations. In both groups, the olfactory tracts and bulbs are absent by definition, the corpus callosum and the fornLx are present in the first grqjap and present or absent in the second. It is usual to detect additional facial anomalies: Bony abnormalities and anomalies of the eye region (Rontal and Dttritz, 1977), mandibulofacial dysostosis (Berndorfer, 1962) and cleft lip and or palate or submucous cleft palate (Berndorre'r, 1962 and Shubich and Sanchez 1985). Our case, similar to that of Cohen and Goitein (1986) is probably included in the first group in view of the absence of accompanying cephalic malformations which we think is the criterion that defines the second group, because Probst

j. Cranio-Max.-Fac. Surg. 19 (1991)

CongenitaI Absence of the Nose and Nasal Fossae

59

Fig. 5 A - Frontal view at two years of age. B - Lateral view.

Fig. 5 a

Fig. 5 b

(1979) includes somatic anomalies in the first and second group of this classification, based on a few things and which also requires autopsy, can undergo modifications when new cases are published. Our case together with the one described by Cohen and Goitein (1986) and the cases of Gifford et al. (1972), can be considered slight if we compare them to the rest of the cases published up to now. Many of the cases of arrhinia may be accompanied by severe abnormalities in the central nervous system, very often incompatible with life. The cases described byMarbttrg and Mettler (1943), Dekaban (1959) and Gitin and Behar (1960), in which a postmortem examination was performed, presented all of them major cerebral malformations. Our patient did not present evidence of anomalies of the central nervous system in the clinical, tomographical nuclear magnetic resonance studies that we have performed. The other somatic anomalies that our patient shows are insignificant for life prognosis. The right microphthalmia caused orbital hypoplasia which is being corrected with a good result by means of a sclerocorneal prosthesis, in order to stimulate bone growth (Fig. 4). Although there have been two cases of anomalies in chromosome 9 in children with arrhinia (Cohen and Goitein, 1986) and Kaminker et al. (1985), there is not yet a genetic explanation which connects this phenotypical malformation to such chromosome abnormalities. Both cases described by Gifford et al. (1972) were operated on at five and six years of age respectively, to establish a nasal airway covered by a skin flap, the final reconstruction taking place at the age of 15. Gifford (1989) had a third patient, (not published), on whom he had not performed opening of the nasal passage. Cohen and Goitein (1986) planned a double surgical'strategy for their patient. In the beginning they provided a nasal airway that allowed the newborn baby to suck and planned a later final reconstruction of the nasal pyramid. The lrirst intervention took place when the child was 16 days old, thereby eliminating the dyspnoea and intercostal jerk that the baby presented, and

permitting it to suck after a few days. Unfortunately the patient died after 29 days due to septic shock. Berger and Martin (1969) described a case with opening of the nasal airway at an early age, which developed unfavourably; this made the authors support the view that such an opening should be performed from 15 years of age onwards. Our patient showed an excellent tolerance to the absence of the nasal airway, without showing any respiratory problems and starting to suck early. For this reason we decided to postpone any kind of surgical intervention, as has been previously explained. Acknowledgement The Authors wish to thank Dr. Cortes Valdes for the Ophthalmological studies and Dr. Carlos Benito for the Neuroradiological studieS.

References Banks, P. A., M.J. Robhlson: Nasal agenesis, a modified oral appliance to aid neonatal airway potency and to support oro-entcric intubation. Eur.J. Orthodont. 10 (1988) 137 Berger, M., C. Martht: L'archinog~nesie totale (absence cong~nitale chez du nez et dcs losses nasales). Apropos d'une observation ex9ccptionelle. Rev. Laryngol. Otol. Rhinol. 90 (1969) 300 Berndoorer, A.: 0ber die seitliche Nasenspalte. Acta OtolaD'ngol. 55 (1962) 163 Blair, V. P.: Congenital atresia or obstruction of the nasal air passages. Ann. Otol. Rhinol. Laryngo. 40 (1931) 1021 Blair, V. P.: J. B. lkown: Nasal abnormalities fanciful and renal. Surg. Gyneco. Obstct. 53 (1931) 797 Coats, G. M., E. D. Schneck: OtolaD'ngology 3 (1960) 1 Cohen, D., K. Goitehl: Arhinin. Rhinol. 24 (1986) 287 Cole, IL IL, C. M. Myer, G. 0. Bratcher: Congenital absence of the nose: A case report. Int. J. Ped. Otorhinolaryngol. 17 (1989) 171 Dekaban, A. S.: Arhinencephaly in an infant born to a diabetic mother. Neuropat. Exp. Neurol. 18 (1959) 620 Gifford, G. H., L. Swanson, D. W. MacCollmn: Congenital absence of the nose and anterior nasophaD~x. Hast. Reeonst. Surg. ,50 (1972) 5

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C. Navarro-Vila et al.: Congenital Absence of the Nose and Nasal Fossae

Patten, B. M.: Embt3"ology of the palate and maxillofacial region. In: Giffor'd, G. H.: Pers. Comm. 1989. Grabb, W. C., S. W. Roscntcin, K. B. Bzoch (cds.): Cleft lip and Gitbin, G., A. J. Bebar: Meningeal angiomatosis, arrhinencephaly, ' palate. Little, Brown, Boston (1971) 21 agenesis of the corpus callosum and a large harnartoma of the Probst, F. P.: The proscnccphalies. Springer, Berlin-Heidelberg-New brain, with neoploria, in an infant hasing bilateral proboscis. Acta York (1979) 101 Anat. 41 (1960) 57 Rontal, M., G. Duritz: Proboscis lateralis: A case report and embryKaminker, C. P., L. Dain, M. A. Lamas, ]. M. Sancbez: Mosaic trisoologic analysis. Laryngosc. 87 (1977) 996 my 9 S}aadrome with unusual phenotype. An. J. Med. Genet. 22 (1985) 237 Rosen, Z.: Embryological introduction to congenital malformations of the nose. Int. Rhinol. 1 (1963) 10 Ke~zbl~,]. U. H.: The importance of the nasal sepmm in facial develSbltbicb, L, C. Sancbez.: Nasal aplasia associated with mcningocele opment. Lar. Otol. 87 (1973) 379 and submucous cleft palate. ENTJ. 64 (1985) 259 Liitolf, V.: Bilateral aplasia of the nose. J. Max.-Fac. Surg. 4 (1976) Sperber, G. H.: Craniofacial embt3"ology (2nd ed). Wright, Bristol 245 1981 Marburg, O., F. A. Mettler: The need of the cranial nerves in a human case of q'clopia and arhinia. Neuropath. Exp. Neurol. 2 (1943) 54 Maz.zola, IL F.: Congenital malformations in the frontonasal area: Prof. C. Navarro-Vila, M.D., D.M.D. Their pathogcnesis and classification. Clin. Hast. Surg. 3 (1976) Maria de Molina 60.4~lzqda 573 E-28006 Madrid Pabner, C. R_, H. G. Thompson: Congenial absence of the nose. Spain Can.J. Surg. 10 (1976) 83