Craniometaphyseal Dysplasia
نویسندگان
چکیده
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 lesions.
منابع مشابه
Sibs with mental retardation, supraorbital sclerosis, and metaphyseal dysplasia: frontometaphyseal dysplasia, craniometaphyseal dysplasia, or a new syndrome?
A brother and sister are presented with unusual facies, bilateral mixed hearing loss, mental retardation, and widespread radiological abnormalities. The clinical and radiological evidence for and against the two most likely diagnoses of frontometaphyseal dysplasia and craniometaphyseal dysplasia is considered.
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1. Feingold M. 28-year follow-up of the craniofacial findings in a patient with craniometaphyseal dysplasia. Am J Med Genet 1999;86:501-2. 2. Jackson WP, Albright F, Drewry G, et al. Metaphyseal dysplasia, epiphyseal dysplasia, diaphyseal dysplasia, and related conditions. I. Familial metaphyseal dysplasia and craniometaphyseal dysplasia; their relation to leontiasis ossea and osteopetrosis; di...
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Craniometaphyseal dysplasia is a rare genetic condition characterized by progressive thickening of bones in the skull and metaphyseal abnormalities in the long bones. This disorder often causes progressively symptomatic cranial nerve compression, but in rare cases foramen magnum stenosis may lead to quadriplegia. Chiari I malformation with craniometaphyseal dysplasia is extremely rare. The auth...
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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 (CMD) is a rare congenital bone dysplasia with abnormal bony overgrowth leading to characteristic facial features and cranial nerve compression. We present a 10-year-old child with bony swelling at the nasal root since birth along with decreased hearing in both ears. She had normal developmental milestones and intelligence. On examination, she had bossing of forehead...
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