Clinical spectrum of cleidocranial dysplasia: a case report
نویسندگان
چکیده
BACKGROUND Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited, be transmitted as dominant characteristics in either sex, or even may appear spontaneously. It presents with skeletal defects of several bones, like partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. CASE PRESENTATION In this case report, we describe an otherwise healthy 30 year-old male with a chief complaint of missing anterior maxillary and Mandibular teeth. CONCLUSION Cleidocranial dysplasia is very rare in occurrence, incidence being 1: 1,000,000. Since early diagnosis of cleidocranial dysplasia is essential for initiating the appropriate treatment approach, clinicians should be aware of the characteristic features. We report a case of cleidocranial dysplasia because of its rarity.
منابع مشابه
Familial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
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INTRODUCTION Cleidocranial dysplasia (CCD) is characterized by aplasia or hypoplasia of the clavicles, characteristic craniofacial malformations, and the presence of numerous supernumerary and unerupted teeth. It affects bones derived from both intra-membranous and endochondral ossification. Incidence has been reported as 1 in 10,00,000. It is caused by mutation in the gene encoding transcripti...
متن کاملDelayed diagnosis of cleidocranial dysplasia in an adult: a case report.
OBJECTIVE To describe a rare case of cleidocranial dysplasia, an autosomal dominant inherited disease involving the skeleton and teeth, with delayed diagnosis. CASE REPORT We report a 24-year-old man with cleidocranial dysplasia admitted with hearing loss, rhinolalia, dyspnea and fatigue. Partial absence of clavicles, a bell-shaped ribcage, an open frontal fontanel, unerupted permanent teeth ...
متن کاملFamilial Cleidocranial Dysplasia
Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected ...
متن کاملNovel mutation of RUNX2 gene in a patient with cleidocranial dysplasia.
BACKGROUND Cleidocranial dysplasia is a rare hereditary skeletal disorder due to heterozygous loss of function mutations in the RUNX2 gene that encodes runt-related transcription factor 2 (RUNX2). Here we report a 52 year-old woman with cleidocranial dysplasia due to a novel RUNX2 mutation. CASE DESCRIPTION A 52 year-old Han Chinese woman presented with short stature and skeletal dysplasia th...
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ورودعنوان ژورنال:
- Cases Journal
دوره 1 شماره
صفحات -
تاریخ انتشار 2008