Cases reported "Dysostoses"

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1/4. The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant.

    We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.
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keywords = mandible
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2/4. pycnodysostosis. Report of a case and review of the Japanese literature, with emphasis on oral and maxillofacial findings.

    We report a case of pycnodysostosis and review 54 cases of this syndrome in the Japanese literature, with special emphasis on oral and maxillofacial findings. Common findings were as follows: hypoplasia of maxilla and mandible, hypopneumatization of the maxillary sinuses, loss of mandibular angle, a grooved palate, and malpositioned teeth.
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ranking = 0.5
keywords = mandible
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3/4. Bilateral osteomyelitis of the mandible in pycnodysostosis. A case report.

    A dwarf suffering from pycnodysostosis was treated for 2 episodes of chronic osteomyelitis of the mandible occurring at an interval of 6 years. Pycnodysostostis, a variant of osteopetrosis, occurs only in dwarfs and is characterised by increased density of bone which may lead to increased susceptibility to fracture and inflammatory disease.
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ranking = 2.5
keywords = mandible
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4/4. New syndrome of spondylospinal thoracic dysostosis with multiple pterygia and arthrogryposis.

    We describe a "new" syndrome of spondylospinal thoracic dysostosis with a short curved spine and fusion of the spinous processes, short thorax with "crab-like" configuration of the ribs, pulmonary hypoplasia, severe arthrogryposis and multiple pterygia, and hypoplastic maxilla and mandible in two siblings. This appears to be an autosomal recessive lethal trait. A literature review revealed two reports of four similar or related cases.
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keywords = mandible
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