Cleidocranial dysplasia with autosomal dominant inheritance pattern
نویسندگان
چکیده
منابع مشابه
Cleidocranial Dysplasia with Autosomal Dominant Inheritance Pattern
Cleidocranial dysplasia (CCD) is an autosomal dominant disease with a wide range of expression, characterized by clavicular hypoplasia, retarded cranial ossification, delayed bone and teeth development, supernumerary teeth, stomatognathic, craniofacial and skeletal abnormalities. This paper presents a case of CCD in a female with brachycephalic skull, depressed frontal bone and nasal bridge, hy...
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We present a mother and daughter with clinical and radiological findings consistent with the diagnosis of campomelic dysplasia. Milder tibial bowing and significant shortening of the phalangeal bones of both hands and feet may distinguish this from the classical autosomal recessive form of the disease.
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Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
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Notta, in 1850, provided the first clinical description of trigger thumb.1,2 He reported the presence of a nodule on a flexor tendon that was interfering with its gliding motion. Since this first description, the etiology of trigger fingers has been debated. Although a genetic basis has been suspected, the evidence for such in reported cases in the English literature is sparse. We present a ped...
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Three generations of a family with clinical and subclinical hypothyroidism caused by thyroid stimulating hormone (TSH) unresponsiveness are described. Findings were low to normal serum thyroxine, raised serum TSH, and low radioiodine uptake; goitre was notably absent. This family is the first evidence of an autosomal dominant mode of transmission of TSH unresponsiveness and may enable identific...
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ژورنال
عنوان ژورنال: Annals of Medical and Health Sciences Research
سال: 2014
ISSN: 2141-9248
DOI: 10.4103/2141-9248.138042