軟骨形成不全症の頭蓋・顎顔面形態について

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  • A Study of Craniofacial Morphology with Achondroplasia.

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Abstract: Achondroplasia is a disease characterized by dwarfism with short limbs, and it is said to be a rare disease that occurs in one person per ten thousand births. The cause of the disease is due to abnormal osteogenesis which results in the disturbance of chondrification with the epiphyseal plates. The craniofacial dysmorphology of the disease is distinguished by short cranial base lengths due to early synostosis of the sphenoid and occipital bones, small-sized middle face depths, and skeletal crossbite due to a receded maxilla. However, the cartilage in the condyle of the mandible is unaffected, for it differs from the other cartilages in the manner of its ossification.<BR>This paper is about a 5-year, 1-month-old girl with achondroplasia and about her craniofacial skeletal and growth pattern based on serial roentgen cephalometry during a three year period. Special concern of interest is place on the large-sized anterior cranial base suggesting no early chondrodystrophy in the sphenoethmoidal and intersphenoidal synchondrosis, since the small-sized cranial base was one of the features in the previous reports. However, each craniofacial measurement including the maxilla, mandible, anterior cranial base, and posterior cranial base in this case demonstrated normal growth in the increment ratio, despite a decelerated physical growth.

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