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患者,男。1岁半。出生后即发现无睑裂。于1988年11月16日收入我科,系第1胎,足月顺产,母乳喂养,其母妊娠期无明显疾病与服药史。其父为先天性Ⅱ度腭裂。家族中无此类患者,父母非近亲结婚。体检:心肺正常,肝脾无肿大,脊柱及四肢无畸形,左侧未触及睾丸。两侧外耳道狭窄,鼓膜窥视不见,两侧鼻孔朝前,鼻根部较正常婴儿增宽、腭骨较高、狭窄。专科检查:双眼无睑裂,眼睑皮下可触及球状块物,右侧球形块物内陷,位置偏低,左侧球形块物向上向外稍突出,触及右侧较左侧小。
Patient, male. 1 year and a half. No blepharophimosis was found after birth. On November 16, 1988 income of our department, the first child, full-term natural delivery, breastfeeding, the mother had no obvious history of pregnancy and medication history. His father is congenital Ⅱ degree cleft palate. No such family members, parents marry non-relatives. Physical examination: normal cardiopulmonary, liver and spleen no enlargement, spine and limbs without deformity, the left side of the testicles have not touched. Both sides of the external auditory canal narrow, eardrum peep, both sides of the nose forward, nasal root wider than normal infants, palatal bone higher, narrow. Specialist examination: no palpebral fissure, palpable under the eyelid ball blocks, the right block invagination, the position is low, the left block slightly upward bulge outwards, touch the right side of the left than the small.