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An unusual presentation of cardiomyopathy in a patient with microcephaly-cardiomyopathy syndrome.

机译:小头型心肌病综合征患者的心肌病异常表现。

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摘要

We report the case of a 15-year-old male patient with microcephaly, dilated cardiomyopathy, mental retardation, secondary hypopituitarism, and minor dysmorphic features: downward- slanting palpebral fissures, narrow palate, small and low-set ears, fifth finger clinodactyly, sandal gaps on both feet, and anal stenosis. He was admitted to the pediatric intensive care unit with signs of progressive cardiac failure. Lethal outcome occurred 25 days after admission. Most clinical features of the patient were similar to those of the four previously reported patients with microcephaly-dilated cardiomyopathy syndrome, but some of this patient's features, such as anal stenosis and secondary hypopituitarism, were unique.
机译:我们报告了一名15岁的男性患者,该患者患有小头畸形,扩张型心肌病,智力低下,继发性垂体机能减退和轻度畸形特征:向下倾斜的睑裂,狭窄的上颚,耳朵小而低落,耳朵有第五根手指,双脚的凉鞋间隙和肛门狭窄。他被录入儿科重症监护病房,伴有进行性心力衰竭的迹象。入院后25天发生致命结局。该患者的大多数临床特征与先前报道的四例小头扩张型心肌病综合征的患者相似,但该患者的某些特征(例如肛门狭窄和继发性垂体功能低下)是独特的。

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