- 期刊
Camptomelic Dysplasia: Report of One Case
肢體彎曲發育不良：一病例報告
摘要
Camptomelic dysplasia是一種罕見但會致命的骨骼生長異常症侯群，它是以長骨變曲和其它生長異常來表現。我們報告一個camptomelic dysplasia的病例，他有典型的表現，包括船形頭，扁平臉，低鼻樑，小下巴，顎裂，前脛骨變曲且在凸面有皮膚凹陶，輕微的股骨彎曲，內翻足，氣管軟化等。因爲預後不好，父母決定放棄積極治療。病人於六天大死於呼吸衰竭。 雖然這種疾病很罕見，但是也會發生在中國人身上。因爲它可能是種遺傳性疾病，因此正確的診斷camptomelic dysplasia是非常重要的。
關鍵字
肢體變曲發育不良並列摘要
A typical case of camptomelic dysplasia was noted to have only prenatally bowed legs. The infant showed the following characteristic features: dolichocephaly, flat-appearing small face, low nasal bridge, micrognathia, cleft palate, anterior bowing of tibia with skin dimpling over convex surface, mild bowing of femurs, talipes equinovarus, and tracheomalacia. Because of poor prognosis, the parents decided not to resuscitate the baby aggressively and the baby died of respiratoryfailure at six days old. Although this disease is rare, it does happen in ethnic Chinese and, because it may be an inherited disease, a correct diagnosis for camptomelic dysplasia is very important.
並列關鍵字
camptomelic dysplasia延伸閱讀
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