Cleidocranial dysplasia: clinico-radiological illustration of a rare case
نویسندگان
چکیده
منابع مشابه
Cleidocranial dysplasia: clinico-radiological illustration of a rare case.
Cleidocranial dysplasia is an autosomal dominant condition caused by mutation of RUNX2, characterized by generalized dysplasia of the bones and teeth. Affected individuals have short stature, atypical facial features, and skeletal anomalies affecting mainly the skull and clavicle. The dental manifestations are mainly delayed exfoliation of the primary teeth and delayed eruption of the permanent...
متن کاملAarskog-Scott Syndrome: Clinico-Radiological Illustration of a Rare Case
Aarskog-Scott Syndrome is a rare syndrome and is estimated to occur in 1 in 1 million individuals in general population. It is transmitted in an X-linked recessive manner and occurs due to FGD1 gene mutation. It has facial, genital and digital hands symptoms, musculoskeletal anomalies and affected growth. Here we present a case of Aarskog-Scott syndrome in an 18-year-old male patient with the c...
متن کامل[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 کاملCleidocranial Dysplasia: A Clinico-radiographic Spectrum with Differential Diagnosis
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...
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ژورنال
عنوان ژورنال: Journal of Oral Science
سال: 2010
ISSN: 1880-4926,1343-4934
DOI: 10.2334/josnusd.52.161