Cleidocranial Dysplasia: A Rare Case Associated with Congenital Hypothyroidism and Severe Neonatal Hyperbilirubinemia

鎖骨顱骨發育不全為一自體顯性遺傳疾病，會影響骨頭骨化及牙齒發育，文獻上此病偶有合併其它之血液、血管、腸道疾患病例，但仍未見此病合併先天甲狀腺機能低下及嚴重新生兒黃疸。吾人首先報告此一病例，病患係一個四歲多男孩，經門診診斷此症，胸部X 光呈現兩側鎖骨發育不全，胸廓窄小，頭骨X 光呈現明顯伏爾姆氏骨（縫間骨）於人形縫上。冠狀縫、矢狀縫、人形縫均仍未癒合。身體檢查有四指幅寬之前囪門、短頭畸形及牙齒排列不整現象。病患係頭胎，出生體重2350公克，懷孕週數33週之早產兒，出生後第四天於屏東基督教醫院因嚴重黃疸接受交換輸血治療，於第10 天診斷為先天性甲狀腺功能低下並開始予以甲狀腺素治療，然後轉診本院，甲狀腺核子99mTC 掃描呈現甲狀腺兩側均呈廣泛性低度吸收。現仍於本院門診追蹤治療。甲狀腺功能現為正常，身高發育位在五十百分比。

關鍵字

無資料

並列摘要

Cleidocranial dysplasia is an autosomal dominant disorder affecting skeletal ossification and tooth development. This disorder can be rarely associated with blood, intestinal and vascular anomalies. There has been no case reported in previous literature that discusses this disorder in association with congenital hypothyroidism and severe neonatal hyperbilirubinemia. Herein, we report on a 4-year-old boy who in an outpatient clinic was diagnosed as having cleidocranial dysplasia, with defective ossification over bilateral hypoplastic clavicles, narrowed thoracic cage on chest x-ray and prominant wormian bones over the lambdold sutures on skull x-ray. Physical examination revealed a 4-rb wide open anterial fontanel, frontal bossing and malalignment of teeth. He was a primpara with birth weight of 2350 gm and gestation age of 33 weeks. He had received blood exchange transfusion on the 4th postnatal day at Ping-Tong Christian Hospital because of severe neonatal hyperbilirubinemia. Congenital hypothyroidism was diagnosed on the 10th day. He was then treated with thyroxine and transferred to our hospital. Thyroid scan revealed diffusely decreased radioactivity in bilateral lobes of the thyroid gland. According to out clinic findings at his regular follow ups, with continued use of thyroxine supplement, he now has a normal thyroid funtion and has a body length of about 50 percentile.

並列關鍵字

cleidocranial dysplasia ； congenital hypothyroidism ； hyperbilirubinemia

國際替代計量

Cleidocranial Dysplasia: A Rare Case Associated with Congenital Hypothyroidism and Severe Neonatal Hyperbilirubinemia

全文下載

主題瀏覽