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先证者男,3岁。因指(趾)畸形走路不稳而就诊,检查:发育、营养、智力均正常,头颅五官无畸形,心肺无异常发现,肝脾未扪及。拇指长1.1cm,食指2cm,中指2.2cm,无名指1.9cm,小指1.2cm均比正常同龄儿短(正常同龄儿童参考值为拇3.5cm,食4.2cm,中5.0cm,无4.5cm,小3.4cm)手掌长5cm,宽6.5cm(正常参考值手掌长6.0cm,宽6cm)双足趾均比同龄儿童短二分之一,足掌长9cm,宽6.85cm(同龄正常儿童参考值:足趾分别为2.5cm,2.4cm、2.4cm、2.2cm、1.9cm,脚掌长12cm,宽5.2cm)。
The proband is male, 3 years old. Due to finger toe deformity walking instability and treatment, check: development, nutrition, intelligence are normal, no deformity of the cranial features, no abnormal heart and lung, liver and spleen not palpable. Thumb length 1.1cm, index finger 2cm, middle finger 2.2cm, ring finger 1.9cm, little finger 1.2cm shorter than normal children (normal children with the same reference value of 3.5cm in thumb, food 4.2cm, 5.0cm, 4.5cm, 3.4 cm) Palm length 5cm, width 6.5cm (normal reference value palm length 6.0cm, width 6cm) Both toes are two times shorter than their peers, foot length 9cm, width 6.85cm (same age normal children’s reference value: Toe 2.5cm, 2.4cm, 2.4cm, 2.2cm, 1.9cm, 12cm long, 5.2cm wide).