[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)].
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.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D003318:Corneal Opacity / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000150:complications; D008437:Maxilla / Q000002:abnormalities*; D008850:Microphthalmos / Q000150:complications; D009666:Nose / Q000002:abnormalities*; D010159:Palate / Q000002:abnormalities; D010375:Pedigree; D013577:Syndrome
Familiäre Arhinie mit Petersscher Anomalie und Kiefermissbildungen, ein neues Fehlbildungssyndrom?