UNEXPLAINED DIARRHEA AND FAILURE TO THRIVE IN 2 SIBLINGS WITH UNUSUAL FACIES AND ABNORMAL SCALP HAIR SHAFTS - A NEW SYNDROME
UNEXPLAINED DIARRHEA AND FAILURE TO THRIVE IN 2 SIBLINGS WITH UNUSUAL FACIES AND ABNORMAL SCALP HAIR SHAFTS - A NEW SYNDROME
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DOI：
10.1136/adc.57.3.212
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发表时间：
1982-01-01
影响因子：
5.2
通讯作者：
RUSSELL, G
中科院分区：
文献类型：
--
作者：
STANKLER, L;LLOYD, D;RUSSELL, G
描述了一个家庭，其中健康父母所生的 2 个兄弟姐妹出现面部异常、持续性腹泻和早逝。详尽的病理和生化检查未能找到原因。两名婴儿的头皮毛发氨基酸组成异常，在扫描电子显微镜检查中呈现出独特的外观；这一事实和临床表现可能代表了一种新的综合征。
A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhea and early death. Exhaustive pathological and biochemical investigations failed to find a cause. The scalp hair of both babies had an abnormal amino acid composition and presented an appearance that was unique on scanning electron microscopic examination; this fact and the clinical picture probably represent a new syndrome.