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Cleidocranial Dysplasia and Its Features

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Cleidocranial Dysplasia and Its Features JOURNAL OF CRITICAL REVIEWS ISSN- 2394-5125 VOL 7, ISSUE 14, 2020 CLEIDOCRANIAL DYSPLASIA AND ITS FEATURES. Dr. A.M. Sherene Christina Roshini1, Dr.N.Aravindha Babu2, Dr.K.M.K.Masthan MDS3, Dr. E. Rajesh MDS4 ,Dr. N.Anitha MDS5 1Post graduate student. Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research 2Professor, Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research 3Professor and Head of the Department, Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research. 4Reader, Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research. 5Reader, Department of Oral pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research. Received: 14 March 2020 Revised and Accepted: 8 July 2020 ABSTRACT: Cleidocranial dysplasia (CCD) is an autosomal-dominant malformation syndrome which affects both bones and teeth. Commonly identified skeletal and dental abnormalities in these patients are hypoplastic/aplastic clavicles, open fontanelles, short stature, retention of primary teeth, delayed eruption of permanent teeth, supernumerary teeth, and multiple impacted teeth. Management requires a multidisciplinary approach including dental alterations , orthognathic surgery and cranioplasty along with management of any complications of CCD. Early diagnosis of this condition enhances a better treatment strategy providing quality of life to the affected individuals. KEYWORDS: Cleidocranial dysostosis , hypoplastic clavicle , delayed eruption of teeth I. INTRODUCTION The term cleidocranial dysplasia is derived from the ancient Greek words cleido (collar bone), kranion (head), and dysplasia (abnormal formation). It is also known as Scheuthauer-Marie-Sainton syndrome or cleidocranial dysostosis, which is a rare skeletal disorder and is characterized by abnormal skeletal and dental development. An estimated prevalence is one per million . It does not differ by race or by gender. It is an inherited autosomal disorder.1 It is characterized by hypoplastic and/or aplastic clavicles, patent sutures and fontanelles, wormian bones, wide pubic symphysis, supernumerary teeth, short stature, and various other skeletal changes. The term “cleidocranial dysostosis” was used before because Cleidocranial dysplasia was thought to include only bones of intramembranous origin, i.e., bones of the skull, clavicles and flat bones. Successive studies have been showed that bones of endochondral ossification are also affected . Hence the term “cleidocranial dysostosis” was changed to “cleidocranial dysplasia” to reflect thegeneralized nature of the condition.2,3 II. CLINICAL FEATURES The clinical appearance is distinct that it is pathognomonic. The main clinical features are recognized during early childhood including a short stature, delayed closure of fontanelles, prominent forehead, and abnormal dental development. Patient’s head usually shows frontal and parietal bossing and a groove along the metopic suture. The neck appears to be abnormally long, and the shoulders are narrow with marked drooping. Clavicular abnormalities with associated muscle defects allow excessive mobility of the shoulder girdle. The clinical spectrum is different within family members and it ranges from mild cases with only dental abnormalities to severe cases with pronounced skeletal deformities.4,5 III. RADIOGRAPHIC FEATURES CLAVICLE The distinctive radiological features are shortened or absent clavicles, delayed ossification of the skull bones, and delayed ossification of pelvic bones.1 The chest radiographs show that the clavicles may be completely 3496 JOURNAL OF CRITICAL REVIEWS ISSN- 2394-5125 VOL 7, ISSUE 14, 2020 absent (aplasia) or smaller than normal (hypoplasia). The clavicles are typically hypoplastic or discontinuous, either unilaterally of bilaterally. FIG 1: CHEST RADIOGRAPH SHOWING HYPOPLASTIC CLAVICLE Hypoplastic clavicles include hypoplasia of the acromial end or absence of the sternal end with the acromial end present. The missing segment may cause fibrous pseudoarthrosis or may be replaced by a fibrous tether or cord.6 CRANIUM Skull is characterized by brachycephaly, delayed or failed closure of the fontanels, open skull sutures, and multiple wormian bones in the coronal and lambdoid suture regions. Abnormal fusion of frontal and parietal bones resulting in open coronal and sagittal sutures are also visible. The nasal bones are absent or hypoplastic. Mandibular prognathism may be secondary to nasomaxillary deficiency. Dense alveolar crestal bone is observed in the anterior mandible. Another craniofacial morphological features are abnormal small or nonexistent maxillary sinuses, hypoplastic zygomatic bones, and patency of the mandibular symphysis.1,7 The zygomatic arch are thin or even discontinuous at the zygomaticotemporal suture. The zygomatic arch has a characteristic downward bend. The mandible is characterized by a narrow ascending ramus with parallel anterior and posterior borders and by an abnormally slender and pointed coronoid process with an abnormal distal curvature.7 The trabecular pattern of the mandible is very coarse. FIG 2 : CRANIAL RADIOGRAPH 3497 JOURNAL OF CRITICAL REVIEWS ISSN- 2394-5125 VOL 7, ISSUE 14, 2020 TEETH It is characterized by prolonged retention and delayed shedding of primary teeth and multiple unerupted permanent and supernumerary teeth.7Dentigerous cysts occasionally associated with unerupted teeth. Even though primary teeth development is rarely affected, root resorption and exfoliation of the primary teeth may be delayed. FIG 3 : OPG SHOWING MULTIPLE UNERUPTED TEETH AND DELAYED SHEDDING OF PRIMARY TEETH IV. HISTOPATHOLOGICAL FEATURES Tooth eruption occurs in acomplex and highly regulated process. The reasons for failure of permanent tooth eruption and retention of the primary teeth in these patients are poorly understood. Absence of cellular cementum at the apex of the root is a factor in failed or delayed eruption of permanent teeth and retention of the primary teeth .8,9 Lack of cellular cementum tend to increase the number of unerupted teeth in patients with Cleidocranial dysplasia.10 A delayed eruption may also be attributable to various other factors including mechanical obstruction of multiple supernumerary teeth. Hence, the most important cause of extreme delay eruption of permanent teeth in these patients are diminished bone resorption, delayed resorption of the roots of primary teeth, and, less commonly, multiple supernumerary teeth.11 V. TREATMENT The treatment protocol may vary according to the age of the patient . In general, deciduous and supernumerary teeth should be extracted to improve the possibility of orthodontic guided eruption. Surgical exposure of unerupted permanent teeth with orthodontic guided eruption is the preferred treatment for adolescent CCD patients. 12Bone overlying permanent teeth must be trimmed because histological studies show that alveolar bone has abnormal dense trabeculation with multiple reversal lines in these patients .13 Orthodontic treatment with mini-implant screws for traction of impacted teeth can reduce the treatment time for CCD patients.14 In individuals with fully developed jaws, dental implants and fixed prostheses are the preferred therapeutic measures requiring multiple extractions of teeth. Cranioplasty using bone cement is used to correct calvarial defects in the open anterior fontanelle, sagittal sutureand metopic suture .15 Midface deficiency can be corrected by orthognathic surgery after growth is complete.16 The above treatments can obtain substantial esthetic and functional benefits to improve the patient’s health status. Ethical clearance – Not required since it is a review article Source of funding – nil Conflict of interest – nil 3498 JOURNAL OF CRITICAL REVIEWS ISSN- 2394-5125 VOL 7, ISSUE 14, 2020 VI. REFERENCES [1]. McNamara C.M., O'Riordan B.C., Blake M., Sandy J.R. Cleidocranial dysplasia: radiological appearances on dental panoramic radiography. DentomaxillofacRadiol. 1999;28:89–97. [2]. McKusick V.A., Scott C.I. A nomenclature for constitutional disorders of bone. J Bone JtSurg Am. 1971;53A:978–986. [3]. Rimoin D.L. International nomenclature of constitutional diseases of bone. J Pediatr. 1978;93:614–616. [4]. Chitayat D., Hodgkinson K.A., Azouz E.M. Intrafamilial variability in cleidocranial dysplasia: a three generation family. Am J Med Genet. 1992;42:298–303. [5]. Quack I., Vonderstrass B., Stock M. Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia. Am J Hum Genet. 1999;65:1268–1278 [6]. Mundlos S. Cleidocranial dysplasia: clinical and molecular genetics. J Med Genet. 1999;36:177–182. [7]. Jensen B.L., Kreiborg S. Craniofacial abnormalities in 52 school-age and adult patients with cleidocranial dysplasia. J Craniofac Genet Dev Biol. 1993;13:98–108. [8]. Rushton M.A. An anomaly of cementum in cleido-cranial dysostosis. Br Dent J. 1956;100:81–83. [9]. Smith N.H., Sydney N.S. A histologic study of cementum in a case of cleidocranial dysostosis. Oral Surg. 1968;25:470–478. [10]. Yamamoto H., Sakae T., Davies J.E. Cleidocranial dysplasia: a light microscope, electron microscope, and crystallographic study. Oral Surg Oral Med Oral Pathol. 1989;68:195–200.
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