A 21-year-old male patient presented with a chief complaint of small upper and lower permanent teeth. According to the history reported by the patient, the size of his teeth never changed with age. No contributing family or medical history was identified. The patient did not report any abnormal oral habits. The findings of his general physical examination were normal.\nAn intraoral soft tissue examination showed the presence of brown pigmented gingiva with a normal contour (). A hard tissue examination revealed retained deciduous teeth and permanent teeth with atypical findings, as well as multiple decayed teeth (). Many of the permanent teeth were missing, and the erupted teeth were widely spaced, with a yellowish brown discoloration (). The enamel layer was absent clinically and post-eruption wearing of the teeth was evident (). The upper central incisors exhibited a semi-lunar shape and the molars had flat occlusal surfaces (). Severe attrition resulted in a collapsed bite and reduced vertical dimensions during occlusion ().\nThe panoramic radiography and cone-beam computed tomography (CBCT) images revealed multiple findings. All of the teeth were affected, especially the posterior teeth (). Multiple calcification nodules were seen in the pulp chambers of the primary and permanent teeth; these nodules were needle-shaped in the incisors and round in the posterior teeth (). The differential radiodensity expected between the dentine and the enamel was absent (). Pericoronal radiolucencies delineated by sclerotic margins around non-erupted teeth were significant (). The impacted teeth presented with complete root formation, exhibiting dilacerations and curvature (). The dental follicles around the unerupted teeth appeared to be hyperplastic (). Extensive crown resorption with partial replacement of the resorbed dentin by globular calcified structures was observed ().\nThe impacted permanent canines, second molars, and third molars were observed to have fully formed roots (). An accessory mental foramen was seen on the right side of the mandible and extensive bone loss was observed around the mesiobuccal root of the left maxillary first molar in the volume-rendered CBCT images (). A provisional diagnosis of amelogenesis imperfecta was made based on the clinical and radiographic findings. The histopathological examination of an extracted deciduous canine using light microscopy confirmed the absence of enamel and the absence of scalloping of the dentinoenamel junction. (). Hence, based on the Witkop classification, the final diagnosis was the enamel agenesis (type 1G) subtype of hypoplastic-type amelogenesis imperfecta, which is an autosomal recessive disorder. The histopathological analysis of specimens obtained during treatment also confirmed the presence of calcified pulpal tissue () and dense collagen bundles with abundant vasculature in the gingival tissue ().\nAs this type of amelogenesis imperfecta can be associated with other organ and metabolic abnormalities, further investigations were carried out. An ultrasound examination of his kidneys demonstrated multiple hyperechoic foci in the medulla of both the kidneys, suggesting bilateral nephrolithiasis (). A 24-hour urine spectrophotometric analysis revealed very low citrate levels (18.9 mg/24 hours; reference range, 116-924 mg/24 hours). Other biochemical and haematological findings were normal (alkaline phosphatase, 128 U/L; urea, 12.84 mg/dL, blood urea nitrogen, 6 mg/dL; creatinine, 1.33 mg/dL, blood urea nitrogen to creatinine ratio, 4.51; estimated glomerular filtration rate, >60 mL/min/1.73 m; sodium, 136 mmol/L, potassium, 4.0 mmol/L; chloride, 98 mmol/L; bicarbonate, 19 mmol/L; calcium, 9.4 mg/dL; vitamin D3, 34.63 ng/mL; urine albumin, 32.1 mg/L). A physical, microscopic, and chemical examination of a urine sample did not reveal any abnormalities (urine creatinine, 17.51 mg/dL; urine albumin-creatinine ratio, 183.32 mg/g; 24 hours calculated citrate in urine, 18.9 mg/24 hours; urine oxalate, 14.27 mg/24 hours, urinary calcium, 98.7 mg/24 hours; parathyroid hormone, 19.70 pg/mL).\nThus, based on previous findings, the diagnosis was modified to enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia.
A 5-year-old boy was referred to Department of Pediatric Dentistry at the Piracicaba Dental School, University of Campinas, Piracicaba, SP, Brazil (Figures -), with the complaint of teeth hypersensitivity during meals and presence of yellow teeth. His parents reported that no one in the family has this change. Clinical examination showed generalized tooth wear, as well as enamel loss affecting the entire primary dentition, with the exception of some cervical areas, and poor oral hygiene.\nA panoramic radiographic examination was performed and the loss of primary teeth structure was observed (). Based on the clinical and radiographic examination and on the exclusion of other possible etiologic factors, such as syndromes, dental fluorosis, or acquired enamel defects, the AI was classified as hypocalcified type. Also, the child presented pacifier use and bottle sucking, lower lip interposition, and mouth breathe. The clinical characteristics observed were abnormal phonation, anterior open bite, and loss of vertical dimension. In addition, the child presented noncooperation for the treatment.\nThe treatment of choice was oral rehabilitation with resin-filled celluloid forms for upper and lower primary incisors and canines and stainless steel crowns on the primary molars. The child's family was instructed about the oral hygiene and the oral habits and management childhood behavior was also realized. A questionnaire on daily food intake was answered by the parents and information about good feeding and eating habits was provided, since the practiced type of nutrition has a direct impact on oral and overall health; moreover, an adequate food, with a balanced intake of nutrients necessary for the proper functioning of the body, is critical to the child's growth and development, contributing to the success of treatment [–]. The initial objective during the treatment was to alleviate the dentinal teeth hypersensitivity, which was achieved by placing glass ionomer cement on the mandibular molars and fluoride varnish application on the anterior teeth (). The benefit of fluoride released from glass ionomers is to promote additional preventive effects, not only acting in the dental structure resistance, but also controlling the growth of S. mutans [, ]. Also, dentin bonding agents seek to obliterate the dentinal tubules, reducing or ceasing hypersensitivity.\nThe restoration of the maxillary and mandibular primary incisors and canines was performed using composite resin-filled celluloid forms (TDV Dental, Pomerode, SC, Brazil) in accordance with the manufacturer's instructions. The procedures were as follows: prepare the forms so they fit directly over the teeth; perforate the lingual surface to overflow the composite resin; isolate the teeth with cotton rolls; acid-etch for 30 seconds with phosphoric acid at 37% (3M/ESPE, St. Paul, MN, USA); rinse with water; change the cotton rolls; gently air-dry; apply two layers of adhesive system (Single Bond, 3M/ESPE, St. Paul, MN, USA) and light-cure following the manufacturer's instructions; apply a light-cured microhybrid resin-composite Opallis (Shade A 0,5/FGM, Joinville, SC, Brazil) inside the celluloid forms; seat the forms with finger pressure; remove material excess; light-cure the restorations; remove the outer forms; check the occlusion; and then finish and polish.\nThe stainless steel crowns were selected and the adjustments were made with carborundum disc (Saint-Gobain Abrasivos Ltd, Carapicuiba, SP, Brazil), with #114 pliers to the satisfactory fit and rubber abrasive points (KG Sorensen, São Paulo, SP, Brazil) to the polish. The interproximal and occlusal tooth surfaces were prepared with diamond burs (KG Sorensen, São Paulo, SP, Brazil). Glass ionomer cement (Vidrion R, SS. White, Rio de Janeiro, RJ, Brazil) was used according to the manufacturer's instructions and placed inside the crowns. Firm seating pressure was exerted on each crown using finger pressure alone. The patient's vertical dimension of occlusion was reestablished with the aid of the stainless steel crowns ().\nSince the mother reported that the child had trouble breathing at night with snoring, he was forwarded to the otolaryngologist. Adenotonsillar hypertrophy was diagnosed and then tonsil removal surgery was carried out. After that, the mother reported that the child had improved breathing. He was forwarded to the speech therapist due to speech difficulties and muscular hypotonia. The child has been recalled for the preventive maintenance at four-month intervals. It is expected that permanent teeth should present AI also. Along the follow-up, the respective diagnosis will be performed and the measurements regarding dietary counseling and instruction about the oral hygiene will be maintained, as well as the treatment of dentinal hypersensitivity, if necessary. Furthermore, after complete eruption of permanent teeth, aesthetic and functional rehabilitation will be performed, if indicated.