论文部分内容阅读
患儿,女,3岁。系第1胎,41周顺产娩出。出生体重2400g。7个月能独坐,1岁时会叫“爸、妈”,语言清楚。1岁半能独走,步态稳妥。此后发育迟缓,多次就诊均拟诊为“侏儒症”。其母孕3个月时因高热伴出疹,用过解热镇痛类药,无其它疾病。父母非近亲婚配,患儿出生时父25岁,母24岁,无同类病家族史。查体:面容特殊,身材短小,语言清楚,理解力好。头围43cm,身高82cm,体重9.5kg。头小而短,眼距窄,塌鼻梁,高腭弓,耳小低位,发际低,短颈。四肢举动灵活,双小指向内弯曲。无通贯掌。指纹多为箕
Children, female, 3 years old. Department of the first child, 41 weeks delivered. Birth weight 2400g. 7 months to sit alone, 1 year old will be called “father, mother”, the language is clear. 1 year and a half can go alone, safe gait. Since then stunted, multiple referrals were diagnosed as “dwarfism.” The mother of 3 months due to fever with rash, used antipyretic analgesics, no other diseases. Parents non-relatives of marriage, children born 25-year-old father, mother 24 years old, no similar family history of disease. Physical examination: special face, short body, clear language, good understanding. Head circumference 43cm, height 82cm, weight 9.5kg. Head small and short, narrow eyes, collapsed nose, high palatal arch, ear low, hairline low, short neck. Limb movements flexible, double little inward bend. Inconsistent palm. Fingerprint mostly Kei