Cleidocranial Dysplasia: A Case Report Illustrating Diagnostic Clinical and Radiological Findings
نویسندگان
چکیده
منابع مشابه
[Cleidocranial dysplasia: a case report].
A 3-month-old female infant who presented with patent sagittal suture and loss of weight is described. Physical examination revealed a large sagittal and metopic suture showing delayed closure, a high-arched palate, saddle nose, hypertelorism and nonpalpable edges of the bilateral clavicles. The clavicles also showed undue mobility. Radiological investigations of the cranial skeletal abnormalit...
متن کاملCleidocranial Dysplasia: A Case Report
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, a...
متن کاملFamilial 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...
متن کاملCleidocranial Dysplasia: A Case Report with Clinical, Radiographic, and Genetic Findings
Ya zış ma Ad re si / Add ress rep rint re qu ests to: Filiz Namdar Pekiner Marmara University, Faculty of Dentistry, Department of Oral Diagnosis and Radiology, Guzelbahce Buyukciftlik Sok. No: 6, 34365 Nisantasi, Istanbul Turkey Telefon / Phone: +90-212-231-9120 Faks / Fax: +90-212-246-5247 Elekt ro nik pos ta ad re si / E-ma il add ress: [email protected] Ka bul ta ri hi / Da te of ac cep ta...
متن کاملClinical spectrum of cleidocranial dysplasia: a case report
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 wormi...
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ژورنال
عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
سال: 2014
ISSN: 2249-782X
DOI: 10.7860/jcdr/2014/9085.4499