Fibromatosis, Gingival, With Hypertrichosis And Mental Retardation

Gohlich-Ratmann et al. (2000) described 2 sisters, born of first-cousin parents, with a syndrome consisting of mental retardation, epilepsy, brachymetacarpalia, hirsutism, bulbous short nose, thick floppy ears with abnormal configuration, and gingival hypertrophy. One girl also presented with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. The authors suggested that this syndrome was the same as that reported by Anavi et al. (1989), although brachymetacarpia was not a feature in affected family members in that report. In both families, the inheritance was autosomal recessive.