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cleidocranial dysplasia/surdité
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Hearing loss as a presenting symptom of cleidocranial dysplasia.
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OBJECTIVE
To report two cases of cleidocranial dysplasia in which hearing loss was the first presenting symptom.
METHODS
Retrospective case review.
METHODS
Two cases of cleidocranial dysplasia, a rare autosomal dominant skeletal dysplasia affecting both membranous and enchondral bone
The association of cleidocranial dysostosis with hearing loss.
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Three new cases of cleidocranial dysostosis with hearing loss are reported in this paper. The significant points concerning this association are: (1) the hearing deficit is predominantly a middle ear conduction problem secondary to structural abnormalities of the ossicles; (2) there is sometimes a
Cleidocranial dysplasia with hearing loss.
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Cleidocranial dysplasia is an inherited skeletal anomaly that affects primarily the skull, clavicle, and dentition, which can occur spontaneously, but most are inherited in autosomal dominant mode. The skull findings are brachycephaly, delayed or failed closure of the fontanelles, presence of open
Cleidocranial dysostosis, unilateral sensorineural hearing loss and gait disturbances: a clear-cut case of diagnostic mimicry?
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Audiological evaluation of patients with cleidocranial dysplasia (CCD)
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Objective: The description of clinical manifestation of hearing problems in cleidocranial dysplasia (CCD) remains limited and incomplete, since CCD constitutes a rare congenital disorder. The study aims to provide a complex panel analysis
[MRI of the cerebellopontine angle in patients with cleidocranial dysostosis].
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OBJECTIVE
Cleidocranial dysostosis (CCD) is an autosomal dominant bone disorder in which deafness is common secondary to malformation of the middle ear structures. The study aimed at MRI evaluation of the cerebellopontine angle in 7 patients with a history of CCD--two generation spanned
Cleidocranial Dysplasia-dental Disorder Treatment and Audiology Diagnosis.
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A review of numerous case reports was made, in order to demonstrate the possibilities for treatment of dental disorders in patients with Cleidocranial dysplasia (CCD). In this paper, our own report, including a diagnosis of the effect on the auditory system, is presented. In addition to the triad of
Craniofacial and temporal bone CT findings in cleidocranial dysplasia.
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Cleidocranial dysplasia (CCD) is a multistructural polyostotic genetic disorder that results from mutation of the CBFA1 gene. Hearing loss is a frequent finding in CCD. We describe the CT craniofacial findings in CCD and provide a comprehensive discussion of the CT temporal bone findings in these
A natural history of cleidocranial dysplasia.
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Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with clavicle hypoplasia and dental abnormalities. The condition is caused by mutations in the CBFA1 gene, a transcription factor that activates osteoblast differentiation. Clinical characteristics associated with
[Cleidocranial dysostosis. A review of 11 cases in five generations].
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A female who was born after a gestation of 37 weeks without incident. A caesarean was performed due to cephalopelvic disproportion. She had no clavicles, dehiscence of the sagittal suture, large anterior fontanelle and occipital prominence. A chest x-ray, abdominal and brain ultrasound and
Otolaryngological manifestations of cleidocranial dysplasia, concentrating on audiological findings.
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OBJECTIVE
Cleidocranial dysplasia is an autosomal dominant skeletal syndrome characterized by open skull sutures and clavicular hypoplasia or aplasia. It results from mutations in the transcription factor CBFA1 required for osteoblast differentiation and normal bone formation. Therefore, mutations
Tissue-specific calibration of extracellular matrix material properties by transforming growth factor-β and Runx2 in bone is required for hearing.
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Physical cues, such as extracellular matrix stiffness, direct cell differentiation and support tissue-specific function. Perturbation of these cues underlies diverse pathologies, including osteoarthritis, cardiovascular disease and cancer. However, the molecular mechanisms that establish
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