[Stapes anomaly, Gorlin-Goltz and hand-foot-uterus syndrome as partial aspects of a generalized ectodermal-mesodermal abnormality syndrome with variable expression].
A case of a Gorlin-Goltz-syndrome with anomalies of the stapes and incus of one ear is described for the first time. In the reported case, the hand-foot-uterus-syndrome could be recognised simultaneously. In the literature, about 250 cases of the syndrome are known, first published by Gorlin and Goltz in 1960. Malformations of the middle ear, however, have not yet been described in the Gorlin-Goltz-syndrome. As in the reported case both of the syndromes, the Gorlin-Goltz-syndrome and the hand-foot-uterus-syndrome, could be diagnosed, it must be discussed whether there are two independent syndromes or only one syndrome of polyvalent malformations characterised by variable expressivity.
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis* / Q000235:genetics; D002280:Basal Cell Carcinoma / Q000175:diagnosis*; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D004429:Ear Ossicles / Q000002:abnormalities*; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005532:Foot Deformities, Congenital; D005786:Gene Expression Regulation; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006314:Hearing Loss, Conductive / Q000175:diagnosis; D006316:Hearing Loss, High-Frequency / Q000175:diagnosis; D006801:Humans; D013199:Stapes / Q000002:abnormalities*; D014599:Uterus / Q000002:abnormalities*
Stapesanomalie, Gorlin-Goltz- und Hand-Fuss-Uterus-Syndrom als Teilaspekte eines Generalisierten Ektodermal-Mesodermalen Missbildungssyndromes mit wechselnder Expressivität.