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本文报告少见的Fanconi氏贫血合并Down氏综合征一例患儿(住院号308206)为第四胎足月产男孩。生后智力及体格发育较落后。一岁半才能站立,2岁只能说单音字。2岁2个月左右,患儿脸色苍白,疲乏,经用各种抗贫血药物均无效,在2岁3个月时来我院就诊。检查见患儿营养状况较差,全身有散在出血点,表浅淋巴结不肿大。呈典型伸舌样白痴面容,并有典型的掌纹和小指畸形。肺(-)心前区可听到Ⅲ级收缩期杂音,肝肿大在肋下2公分,脾未摸及,神经系统检查(-),尚伴有耳小,外生殖器小等先天畸形。其他部分皮肤色素沉着。实验室检查:未稍血中红细胞
This article reports a rare case of Fanconi’s anemia with Down’s syndrome in a child (hospital number 308206) as a fourth-term full-term boy. After birth, mental and physical development than the backward. One and a half years to stand, 2-year-old can only say monosyllabic. 2-year-old 2 months or so, children pale, tired, with a variety of anti-anemia drugs are invalid at 3 years old at 2 years old to our hospital. Check see children with poor nutritional status, systemic scattered bleeding point, superficial lymph nodes are not swollen. It is typical of tongue-like idiot, with typical palmprint and little finger deformities. Lung (-) precordial area can hear Ⅲ systolic murmur, hepatomegaly in the ribs 2 cm, spleen not touched, nervous system examination (-), is still accompanied by small ears, genital small congenital malformations. Other parts of the skin pigmentation. Laboratory tests: no blood red blood cells