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Dentomaxillary Abnormalities in Genetic Diseases

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Dentomaxillary Abnormalities in Genetic Diseases VVAARRIIAA Dentomaxillary abnormalities in genetic diseases Gabriela Lilios1, Lenuta Malcea2 Constanta, Romania Summary The purpose of this work is to identify the congenital bone diseases (as a result of the anomalies in the bone and joint system development), associated with dentomaxillary modifications. Objectives. Stating the etiology of congenital bone diseases, in order to anticipate dental problems, their prognosis and recurrence risk. Approaching various types of dental anomalies, their severity and degree of spreading in the most frequent congenital bone diseases. Identifying those bone syn- dromes, which benefit from etiopathogenic, general, orthopedic, surgical etc. treatment supporting the dental recovery effort. Methods. The survey is a five-angled approach of the most frequent congenital bone diseases relat- ed to dentomaxillary anomalies, bone general signs of the considered syndromes; etiology; type of related dentomaxillary modifications. Results. Genetic bone diseases are associated with dentomaxillary modifications, as common alter- ations occur ever since the embryonic stage. Enzymopathies, which result in the unmetabolized sub- stances storage, at bone level included, alter facial bones and dentition, as well. Determination of the type of bone disease, as well as the etiologic classification is necessary to anticipate dental mishaps, in order to determine their prognosis and recurrence risk. Conclusions. Disorders in the dentition development take on prevailing aspects in case of a certain bone disease, however they may co-exist. Etiopathogenic treatment improves the overall evolution of such diseases, supporting the dental recovery effort. Key words: dentomaxillary anomalies, embryological development, bone, new-born. Introduction embryologic stage entail dentomaxillary modifications. The survey approaches the issues on dentomaxillary modifications, their types, Material and Method complexity and spreading degree occurring in the bone and joint system development This work approaches the main bone anomalies. The purpose of our endeavor is signs of malformation syndromes (as sec- to identify the bone syndromes accompa- ondary to the anomalies in the bone and nied by dentomaxillary modifications, joint system development) and coexisting assuming that they have the same embry- dentomaxillary abnormalities, in descriptive ologic origin (Table 1), as alterations in the manner, as from the simultaneous and com- 1 Assoc. Prof., M.D., Department of Physiology, Faculty of Dental Medicine and Pharmacy, “Ovidius” University of Constanta 2 M.D., Pediatrician and Neonathologist, Clinical Hospital of Constanta 56 OHDMBSC - Vol. V - No. 4 - December, 2006 Table 1. Embrionic development. Face and skeleton. (Jones, 1988) Age Face Skeleton 24 days Mandible Hyoid arches 30 days Fusion, mandible, arches Arm bud 34 days Leg bud Weeks Fetal development 7 1/2 Palatal swellings Cartilaginous models of bones Dental lamina Chondrocranium Epithelium Tail regression 8 Nares plugged Ossification center Sublingual gland 10 Lips Sternum Palate Joints 12 Dental papilla Tail degenerated Notochord degenerated. 16 Palate complete Distinct bones Enamel and dentine 24 Nares reopen Calcification of tooth primordial 38 Rudimentary frontal maxillary sinuses mon embryologic development of the skele- Etiology: the findings of a 2:1 female to ton and facial bones. male sex incidence have favored an X- The following are considered: linked dominant mode of determination. 1. congenital bone diseases frequently Treatment: Vitamin D therapy in a triggering dental abnormalities, as well as dosage of 25,000 to 100,000 units per day those where such alterations occur occasion- may be necessary. The therapy should be ally; discontinued every few years, because 2. more frequent types of dental modifi- spontaneous amelioration of the cations accompanying such syndromes; hypocalcemia may occur with time. 3. their etiology and transmission ways in order to determine their prognosis and 2. Chondroectodermal Dysplasia recurrence risk; Dentition: neonatal teeth; partial 4. possible related mental deficit; anodontia; small teeth, and/or delayed erup- 5. etiopathogenic, general, orthopedic, tion; dental problems are frequent. and surgical treatment. Etiology: Autosomal recessive. The majority of survivors are of normal Results intelligence. I. Anodontia 3. Cleidocranial Dysostosis, a “consti- Frequent in: tutional”, generalized and symmetric dis- 1. Albright Hereditary Osteodystrophy ease. The more obvious feature is the defect Syndrome Pseudohypoparathyroidism – in clavicle and cranium [2]. because of hypocalcemia and hyperphos- Abnormalities: craniofacial (brachy- phatemia that are unresponsive to parathor- cephaly with bossing; midfacial hypopla- mone [1]. Dentition: Delayed dental erup- sia); clavicle and chest (aplasia of clavicle; tion, aplasia and/or enamel hypoplasia. small thorax). 57 OHDMBSC - Vol. V - No. 4 - December, 2006 Dentition: late eruption (especially the Etiology: autosomal recessive determi- permanent teeth). nation. Malformed roots; retention cysts; The artist Toulouse Lautrec is consid- enamel hypoplasia; supernumerary teeth. ered to have had pycnodysostosis. Etiology: autosomal dominant, with wide variability in expression. Occasional in: The patients have a normal intelligence. 1. Crouzon Syndrome Abnormalities: shallow orbits; prema- 4. Frontometaphyseal Dysplasia ture craniosynostosis; maxyllary hypopla- Abnormalities: craniofacial (coarse sia. face with prominent supraorbital ridges). Dentition is affected through maxillary Limbs (flexion defects of fingers, wrists, hypoplasia. elbows, knees, and ankles). Etiology: Autosomal dominant with Chest deformities, scoliosis. variable in expression. About one quarter of Dentition: partial anodontia; delayed the reported cases have had a negative fami- eruption; retained deciduous teeth; high ly history. palate; small mandible. Etiology: X-linked with severe mani- 2. Oculo-dento digital Syndrome festations in male and variable but more Abnormalities: Eyes (microphtalmos, mildly affected females. microcornea, short palpebral fissures). Dentition: enamel hypoplasia. 5. Oto- palato digital Syndrome (Taybi Etiology: dominant autosomal determi- Syndrome) nation. The syndrome was initially described by Taybi in 1962. After that many cases have been recognized. II. Hypodontia Abnormalities: small stature; cranium Frequent in: (frontal and occipital prominence; absence 1. Chondroectodermal dysplasia of frontal and sphenoid sinuses); facial bone hypoplasia; limb (limited elbow extention). 2. Coffin Lowry Syndrome Dentition: partial anodontia; impacted Dentition: hypodontia; malocclusion; teeth. wide spaced teeth. Performance: mild mental deficiency Etiology: X-linked determination. The (IQ = 75-90). females have slight to moderate mental defi- Etiology: X-linked, semidominant. ciency. 6. Pycnodysostosis 3. Down Syndrome (trisomy 21 syn- In 1962, Maroteaux and Lamy drome). described the special condition (cleidocra- This syndrome has an incidence of nial dysostosis associated with osteosclero- 1/660 newborns making it the most common sis and bone fragility) as pycnosynostosis. pattern of malformation in man. Abnormalities: small stature; osteoscle- Abnormalities: general, CNS, craniofa- rosis; craniofacial (frontal and occipital cial, ears, neck, hands, feet, pelvis, cardiac prominence; delayed closure of sutures; etc. facial hypoplasia). Dentition: hypoplasia, irregular place- Dentition: irregular permanent teeth; ment, fewer caries than usual. partial anodontia; delayed eruption; caries. Performance. Mental deficiency (IQ = 58 OHDMBSC - Vol. V - No. 4 - December, 2006 25-50 with an occasional individual above 50, the mean IQ for older patients is 24). Etiology. Trisomia 21. III. Enamel hypoplasia Types of chromosomal alteration of Frequent in: Down syndrome: full 21 Trisomy - 94 %; 21 1. Morquio Syndrome (Mucopolysa- Trisomy/normal mosaicism – 2.4 %; ccharidosis IV). translocations cases – 3.3 %; Mosaicism Deficiencies of two different enzymes usually leads to a less sever phenotype. leading to a severe form: mucopolysacchari- dosis IV A, and a mild form, mucopolysac- 4. Osteogenesis imperfecta, type I charidosis IV B. At least four type of osteogenesis Abnormalities: severe limitation of imperfecta exist. Osteogenesis imperfecta growth (adult stature 82 to 115 cm); cranio- associates dental disorders [3]. facial; skeletal and joints; marked Abnormalities: small stature; bones platyspondily; short, curved long bones, (thin cortices, small facial bones); joints and short stubby hands. ligaments; sclerae and skin; hearing. Dentition: widely spaced teeth with Dentition: hypoplasia of dentin and thin enamel that tends to become grayish in pulp with translucency of teeth; yellowish or color. bluish-gray coloration; susceptibility to Mentality is normal in both the severe caries; irregular placement; late eruption. and the mild forms. Natural History. There is wide individ- Etiology: autosomal recessive. ual variability. The long leg bones are the most frequent sites of breakage. After ado- 2. Pseudovitamin D Deficiency Rickets lescence, the likelihood of fractures dimin- There is a disease described by Prader ishes. By 30-39 years of age, 35% of in 1961. patients are deaf; by 60 years of age 50% of Metabolic: hypocalcemia, elevated patients are deaf. serum alkaline phosphatase. Etiology. Autosomal dominant. Dentition: enamel hypoplasia of post- Treatment. Long term calcitonin may be natal onset. beneficial
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