Craniometaphyseal dysplasia (CMD), autosomal dominant form.
نویسندگان
چکیده
منابع مشابه
Craniometaphyseal dysplasia.
Craniometaphyseal dysplasia is a rare congenital anomaly involving the modelling of the metaphyses and characterized by pronounced splaying of the metaphyseal ends of the long bones, enormous thickening of the base of the skull, and absence of pneumatization of the paranasal sinuses and mastoid region. Pyle (I93i) reported the first case and the disease is sometimes named after him. Ellis (1934...
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Craniometaphyseal dysplasia is a rare bone disorder of unknown etiology characterized by overgrowth of the skull base or craniofacial bones and abnormal remodeling of the metaphyses of the long bones. We present a sporadic case of craniometaphyseal dysplasia associated with facial paralysis observed in a 4-year-old female, which emphasizes the importance of the early detection of accompanying l...
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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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The clinical and radiographic manifestations in a 45-year-old male with frontometaphyseal dysplasia (FMD) are documented and depicted. Deafness and degenerative osteoarthropathy in weight-bearing joints were the main clinical problems. Widespread patchy cranial sclerosis was reminiscent of Paget's disease, while digital deformity resembled rheumatoid arthritis. On the basis of a review and tabu...
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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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1995
ISSN: 1468-6244
DOI: 10.1136/jmg.32.5.370