Ruprecht K W, Majewski F
Klin Monbl Augenheilkd. 1978 May;172(5):708-15.
A report is given on two sisters with arhinia, hypertelorism, Peters' anomaly and deformities of the maxilla. The lacrimal sacs in both patients were extirpated because of recurrent dacryoadenitis due to bilateral aplasia of the nasolacrimal ducts. One eye showing Peters' anomaly with microphthalmus was enucleated in the elder patient 12 years ago. Differential diagnosis includes frontonasal dysplasia and the different types of holoprosencephaly-syndromes. Probably this new malformation syndrome is a recessive inherited.
报告了两例患有无鼻、眼距过宽、彼得斯异常和上颌骨畸形的姐妹病例。由于双侧鼻泪管发育不全导致复发性泪囊炎,两名患者的泪囊均被摘除。12年前,年龄较大的患者摘除了一只患有彼得斯异常并伴有小眼畸形的眼睛。鉴别诊断包括额鼻发育异常和不同类型的前脑无裂畸形综合征。这种新的畸形综合征可能是隐性遗传的。