PEDIATRICDENTISTRY/Copyright @1985by The AmericanAcademy of Pediatric Dentistry Volume 7 Number 4 CAS The Nance-Horan syndrome of dental anomalies, congenital cataracts, microphthalmia, and anteverted pinna: case report W. Kim Seow, BDS, MDSc, FRACDS J.P. Brown, BDSc, MS, PhD, FRACDS K. Romaniuk, BDS, MDS, DrMedDent, PhD, FRACDS Abstract phological features and metabolic changes are not well defined. A case of a male patient presenting with unusual dental morphology, anterior supernumeraryteeth, and This report describes a patient who presented with agenesis of premolarsassociated with congenital cataracts, peg-shaped central incisors, anterior supernumerary microphthalmiaand anteverted pinna is described. teeth, agenesis of premolars, and taurodont molars Although3 similar cases are in the medical literature, with unusual rhomboidal crown morphology and some this is the first case in whichthe dental features are prominent pulp horns. These multiple dental anom- describedin detail. alies were associated with congenital cataracts, mi- crophthalmia, and anteverted pinna. Dental anomalies associated with many congen- Clinical Report ital and hereditary syndromes have been well docu- mented. Hypodontia, the agenesis of one or more The patient, a Caucasian male was 8 years of age teeth,E is observed in various ectodermal dysplasias when first referred to the University Dental School while hyperdontia or the presence of supernumerary by the School Dental Service for assessment and teeth is a well-described feature of cleidocranial treatment of supernumerary teeth. dysostosis 2 and Gardner’s syndrome.3 Disorders of He was of normal intelligence, with height 132.4 tooth form also are associated with manygenetic dis- cm (90th percentile) and weight (22.6 kg (25th eases. Taurodontism, an anomaly in which the fur- centile). He had almost total loss of vision which re- cation of molars is displaced apically, resulting in sulted from bilateral cataracts and attended a school elongation of the body and pulp chamber and in for the blind. In addition, he also showed micro- shortening of the roots, has been described in the phthalmia, convergent strabismus of the left eye, and trichoonychondental (TOD) syndrome, the tricho- nystagmus. The ears appeared large and anteverted, dento-osseous syndrome, the Mohr syndrome (oral- but no obvious abnormality of pinna morphology was facial-digital syndromeII) as well as the Kleinfelter’s noted (Fig 1). No other general dysmorphic features syndrome. 4 Alteration in crown morphology also is were found. seen in Ellis-van Creveld syndromes where conically shaped lateral incisors and canines and barrel-shaped Dental Findings central incisors are present. At the time of the first dental examination, all pri- In many of these inherited conditions, the dental mary teeth were present except for the mandibular findings are so consistent as to constitute important incisors, the left maxillary second molar, and the features of the syndrome. Thus, recognition of dental maxillary right central incisor. The maxillary perma- anomalies in patients with congenital medical con- nent first molars and mandibular incisors were fully ditions may play an important role in the diagnosis erupted. The maxillary primary left central incisor was of the disease, especially in cases where dysmor- carious, nonvital and abscessed, and the root frag- PEDIATRIC DENTISTRY: December 1985/Vol. 7 No. 4 307 FIG 3. Orthopantomograph of the patient taken at age 7 years, FIG 1. Photograph of the patient's face showing front and side 10 months, revealing agenesis of both maxillary and left man- views. dibular second premolars, anterior supernumerary teeth, and taurodont first permanent molars. FIG 2. Models of the pa- tient's dentition at age 8 years showing the abnor- mal morphology of the teeth. ment of the maxillary left primary second molar pres- FIG 4. Intraoral radiographs of the patient. ent. The primary second molars appeared ankylosed. The crowns of the primary molars were abnormal, horns of lower second primary molars appeared to with buccal, lingual, mesial, and distal surfaces con- extend very close to the occlusal surfaces. Intraoral verging toward the occlusal. The occlusal table thus radiographs confirmed the findings in the Orthopan- appeared narrow. In addition, an extra cusp was tomograph (Fig 4). No proximal caries was noted from present in the center of the occlusal surface of the bite-wing radiographs. maxillary right deciduous molar (Fig 2). The abscessed primary incisor, the root fragment Examination of the occlusion revealed a deep ov- of the maxillary second deciduous molar, and the su- erbite with the lower incisors contacting the upper pernumeraries were removed with the aid of local palatal gingiva and an overjet of 3 mm. There was a anesthesia. Healing was uneventful. A histological bilateral posterior open bite of about 3 mm. examination of the supernumeraries revealed no sig- An Orthopantomograph taken at age 7 years, 10 nificant findings. The patient was followed up reg- months revealed agenesis of both maxillary and left ularly for preventive care. mandibular second premolars (Fig 3). In addition, 2 When the permanent teeth erupted, they were noted supernumerary teeth were present in the area of the to be distinctly abnormal in crown morphology. The maxillary central incisors. Further interesting find- permanent incisors were peg-shaped with marked ings included the taurodont first permanent molars convergence of the proximal surfaces toward the in- with their large pulp chambers. Also, the mesial pulp cisal edges. This was more marked in the maxillary 308 DENTAL ANOMALIES/CONGENITAL CATARACTS: Seow et al. incisors compared to the mandibular incisors. In ad- fects. Highly irregular dentine with cellular cementum dition, the maxillary central incisors were rotated and (or bone) was present in abundance on the floor of a large diastema was present between the teeth. The the pulp chamber, reducing its size considerably (Fig first permanent molars also had occlusally converg- 9). This tooth also exhibited bony ankylosis. ing sides so that the occlusal surfaces were reduced. The cusps of these teeth were rounded and reduced Medical History in height. In addition, an extra cusp was present in The patient was the older of 2 boys born of a non- the center of the occlusal surface of each of the max- consanguinous marriage. He was the product of a illary first permanent molars. The dentition at age 12 normal, full-term, uneventful pregnancy with birth years is shown in Figures 5, 6, and 7. weight of 2.78 kg. Two days after birth he developed At age 12 years, another orthopantomograph re- hepatosplenomegaly and jaundice with bilirubin lev- vealed another supernumerary tooth developing in els of 6.3 mg/dl. The jaundice persisted for several the area of the root of the right maxillary canine. In weeks and extensive investigations revealed no an- addition, the roots of the maxillary central incisors atomical abnormalities of the biliary system. How- appeared dilacerated. Although the second perma- ever, hepatosplenomegaly persisted and liver function nent molars still were unerupted, it was evident from tests remained abnormal, with elevated SCOT, LDH, this radiograph that their crown morphology was also and serum alkaline phosphatase levels. Because he abnormal, with tapered proximal surfaces. These teeth was otherwise well, no further investigations were were also taurodont, similar to the first permanent undertaken. molars (Fig 8). At 6 months of age it was discovered that the child A hand-wrist radiograph revealed that the patient had bilateral congenital cataracts with severe loss of was about 6 months retarded in skeletal age com- vision, microphthalmia, and convergent strabismus pared to the reference standards of Greulich and Pyle.6 of the left eye. These findings subsequently were No morphological bone defects were detected. A mild confirmed by two ophthalmologists. Because of the skeletal II base was observed from a lateral skull presence of congenital cataracts and neonatal jaun- radiograph. dice, the child was investigated for the possibility of The mandibular second primary molars were ex- congenital infection with TORCH (toxoplasmosis, other tracted to allow optimal eruption of the premolars. organisms including syphilis, rubella, cytomegalovi- The dentition of the patient's mother and brother were rus, and herpes) organisms but laboratory tests were examined clinically and radiographically but no sig- insignificant. nificant features were noted. The child also had a history of asthma which started at a few months of age and was controlled by sal- Histological Findings butamol aminophylline, and corticosteroid. Microscopically, sections of the primary molar tooth At 9 years of age, alphaj-antitrypsin deficiency was showed a relatively thin layer of enamel with several diagnosed by measurements of the serum levels of sites of developmental disturbances characterized by this enzyme. Alpha,-antitrypsin is an inhibitor of disk-shaped depressions of the surface and accen- trypsin and other protease enzymes in serum. The tuated within the body of enamel beneath these de- normal phenotype of the Pi (Protease inhibitor) sys- Fic 5. (left) Photograph showing abnor- Fie 6. (center) Photograph of the maxil- Fie 7. (right)) Photograph of the mandi- mal permanent anterior teeth of the pa- lary teeth, depicting the unusual mor- bular permanent teeth showing their tient. phology of the maxillary permanent first abnormal