نتایج جستجو برای: cleidocranial dysplasia
تعداد نتایج: 28648 فیلتر نتایج به سال:
Background Cleidocranial dysplasia is a type of skeletal dysplasia, which is primarily characterized by delayed ossification of skeletal structures. It causes facial and oral abnormalities, resulting in difficult airway management and neuraxial anesthesia. Case presentation The patient was a 24-year-old primipara (height 138 cm, weight 42 kg) with a hypoplastic right clavicle, patent fontanel...
Introduction: Cleidocranial dysplasia is a rare hereditary autosomal dominant disorder which presents as a defect of the skeleton and the teeth. Case Report: The present case is of a 37 year old male patient with a complaint of difficulty in chewing due to multiple missing teeth. On examination, the pathognomonic triad of Cleidocranial Dysplasia, viz., multiple impacted supernumerary teeth, par...
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...
Cleidocranial dysplasia (CCD), is an autosomal dominant disorder with a prevalence of 1 in 1,000,000 individuals. It is generally characterized by orofacial manifestations, including enamel hypoplasia, retained primary teeth, and impacted permanent and supernumerary teeth. The successful treatment involving a timing intervention (orthodontic-maxillofacial surgeons-restorative) is already descri...
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder resulting in the skeletal and dental abnormalities due to the disturbance in ossification of the bones. Clavicle is the most commonly affected bone. The prevalence of CCD is one in millions of live births. In this report, we present a case of 10-years-old boy showing features of this condition.
Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, involving the skeleton and the teeth. It presents with a major finding of the hypoplasia or aplasia of clavicles along with late closure of the fontanels, presence of open skull sutures and multiple wormian bones. Although not frequent it can present to the dentist commonly with significant retention of mult...
Cleidocranial dysplasia is a rare autosomal disorder which manifests as partial or complete absence of clavicles, multiple supernumerary teeth, and delayed closure of fontanelle. Classical cases of cleidocranial dysplasia are easily diagnosed very early in the life. However, cases with partial manifestation of the syndrome and noncontributory family history are difficult to diagnose. Here, we r...
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 ...
Pycnodysostosis is a rare genetic disorder and was first described in 1962 by Maroteaux and Lamy. The incidence of this anomaly is estimated to be 1.7 per 1 million births. The principal characteristics of this disorder are short stature, prominent eyes with blue sclera, beaked nose, cranial dysplasia, exposed fontanelles and cranial sutures, clavicular dysplasia, total/partial dysplasia of the...
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