- 期刊
Characteristics of Cornelia de Lange Syndrome in Chinese Patients
國人Cornelia de Lange症之特徵
摘要
吾等五年來探討國人Cornelia de Lange症之特徵。共有22例列入研究，所有的病例均有：出生前之生長遲滯，低能及行動緩漫，初生時之肌肉緊張度增加，嬰兒期之低調呻吟哭聲，頭部細小扁平，粗眉暨併眉，人中長而且突出，全身多毛等。其他常見的特徵則為小下頜(82%)，全身大理石樣皮膚(55%)、斷掌(77%)，只有1例有兩邊之第二及第三趾之併趾。併有抽搐現象者有5例（佔23%）。在所有的病例中均有四肢末端細小的現象，但却未見海豹肢畸型等嚴重之四肢畸型者。檢查其血中胺基酸值顯示普遍性低值，尤以甘胺酸及甲硫胺酸較為顯著。可能是一種非特異性的表現，亦可能是由於身體情況較差，進食不足所致。染色體顯帶檢查法並未發現染色體的畸變。
關鍵字
無資料並列摘要
Twenty-two Chinese children diagnosed as having Cornelia de Lange Syndrome were studied. Their main dysmorphic features were as follows. Growth retardation of prenatal onset in all (100%). Initial hypertonicity in all (100%). Low-pitched, weak, growling crying during infancy in all (100%). All of them had microbrachycephaly. All of them (100%) had bushy eyebrows and synophrys. All of them (100%) had prominent and long philtrum. All of them had hirsutism. There was micrognathia in 18 of them (82%); cutis marmorata in 12 (55%); simian crease in 17 (77%); syndactyly in only one of them (5%). Five (23%) had seizure disorders. It is very interesting to note that, although all of them had micromelia, phocomelia had not been found within a five-year-period. Plasma amino acid studies revealed generalized low normal limits, especially those of glycine and methionine. This probably resulted from inadequate intake because of poor general condition, especially during early infancy. Detailed karyotypes of the patients revealed no obvious chromosomal aberrations.