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马凡(Marfan)氏综合征主要表现为骨骼—眼病—心血管改变三联症,现将所见一例报告于后。罗某,男,14岁,农民,1978年11月23日因“心脏病”就诊。患者父母健在,出生时为足月顺产,生后第7天发现“疝气”,8岁时两眼“发炎”,视力日渐减退,至今仅有光感。生后从无紫绀,1977年诊病时发现有“心脏病”。智力发育尚可,身长147厘米,指距161.5厘米,头至耻骨58厘米,耻骨至足89厘米,体形明显瘦长。皮下脂肪缺乏,肌肉萎缩,关节呈梭形,躁腕关节可过度伸展,左手小指畸形,呈直角向桡侧曲屈.两手拇征(Thumbsign)阳性。头部外形扁长,左眼突出,晶体移位,虹膜呈红色,前房积血,上腭高拱,无裂痕。鸡胸,肩胛隆起,脊柱胸11～12腰1～2处向左方侧
Marfan syndrome is mainly manifested as skeletal-ocular disease-cardiovascular disease triad, now see a case report later. Luomou, male, 14 years old, farmer, November 23, 1978 due to “heart disease” treatment. The patient’s parents are alive and have full-term birth at birth. Hernia was found on the 7th day after birth. Both eyes were “inflamed” at the age of 8 years, with diminished visual acuity and so far only a sense of light. After birth from cyanosis, 1977 found that “heart disease.” Intellectual development is still available, 147 cm in length, refers to the distance 161.5 cm, head to the pubic bone 58 cm, pubic bone to full 89 cm, was significantly slender physique. Subcutaneous fat deficiency, muscle atrophy, joint was fusiform, ankle joint can be over-stretched, left-handed little finger deformity, at right angles to the radial flexor flexion. Thumbsign (thumbsign) positive hands. Flat head shape, left prominent, crystal shift, iris red, anterior chamber hemorrhage, palatal arch, no cracks. Chicken breast, scapular bulge, spinal chest 11 to 12 waist 1 to 2 to the left side