AIM: Spondylometaphyseal Dysplasia (SMD) or Goldblatt syndrome is a dominantly inherited dysplasia and general involvement. Spondylometaphyseal Dysplasia includes special clinical and radiological features such as pectus carinatum, joint hyperextension, coxa and genu valgum , asymmetry of upper and lower limbs due to metaphyseal irregularity, platyspondyly. The association of these clinical signs with dentinogenesis imperfecta was first analyzed by Goldbaltt in 1991, from which the syndrome took its name. The clinical signs seem to be confined to skeleton, ligaments and teeth with greater involvement of permanent teeth. Intellectual development is normal and eyes and ears are not involved.The aim of this work is to study a patient suffering from Goldblatt syndrome and identify dental and orofacial alterations typical of this disease, in order to establish diagnostic criteria providing a more efficient diagnosis and therapeutic management of patients affected by this syndrome.
METHODS: We used several radiographic examinations such as: X-ray of chest, hand, spine in the two projections, lower limbs with pelvis in one projection, NMR of the temporomandibular joint (TMJ) without contrast, latero-lateral and posterior-anterior skull x-ray, OPT X-ray of the dental arches. Also, tooth impression was taken to make the study models. Genetic tests were also performed, in order to search for alterations of genes COL10A1 and SHOX, which are responsible for the synthesis of proteins involved in the development of cartilage and bone. For the evaluation of diseases related to oral breathing, front and back rhinomanometry was used together with some clinical maneuvers that confirmed the clinical diagnosis; these maneuvers were Glatzel mirror and Gudin test. We also carried out quality and quantity laboratory tests on the salivary flow.
RESULTS: The patient recruited in our study showed the typical signs of SMD on extraoral physical examination: pronounced orbits, downward palpebral fissures, short and flattened nose, midface hypoplasia and prognathism. The intraoral examination showed diffuse malposition of teeth with crowding of 13-23 and 33-43, lingualization of 32 and 42 with respect to the lower central incisors and extrusion of teeth 33 and 43 ; necrotic roots of 36 and destructive decay of 46. Frequent dysodontiasis and destructive decay are ascribable to dentinogenesis imperfecta, acidity and reduced salivary flow. Orthodontic diagnosis indicates that the patient had a Class II division II with hyperdivergence, mandibular retrognathia and transversal hypoplasia of the palate. The latter was responsible of atypical swallowing and mouth breathing. NMR of TMJ performed with the mouth closed and then fully open showed signs of ligamentous laxity. The analysis of genes COL10A1 and SHOX did not present any anomaly.
CONCLUSION: Our study allows to state that there is a correlation between Goldblatt syndrome and craniofacial and dental problems. A reduced development of the mandible and maxilla associated with the alteration of ossification centers leads to mandibular retrognathia and transversal hypoplasia of the palate. This is why cephalometric tracing is essential in the treatment of these patients. It was shown that all dental problems (dysodontiasis, tooth decay) were related to dentinogenesis imperfecta. The above-mentioned procedure helps the operator in the diagnosis and immediate identification of the treatment plan to be carried out in these cases.
Authors: INCHINGOLO Francesco, MARINELLI Grazia, INCHINGOLO Angelo Michele, DE BENEDITTIS Michele, INCHINGOLO Alessio Danilo, SCHINCO Fabio, MARRELLI Massimo, TATULLO Marco, MALCANGI Giuseppina, GAGLIARDI Angelo, DIPALMA Gianna, CORTELAZZI Roberto.