Possible new type of oral-facial-digital syndrome with retinal abnormalities: OFDS type (VIII)
The most recent classification of the oral-facial-digital syndromes (OFDS) includes 7 types distinguishable by different clinical signs. We describe 2 brothers presenting oral, facial, and digital anomalies and an additional manifestation consisting of specific retinal abnormalities, i.e., retinochoroideal lacunae of colobomatous origin. Our patients may be affected with a new type of OFDS, i.e., OFDS type VIII, characterized by eye abnormalities in addition to other manifestations that partially overlap with those of OFDS type II. Given that there are 2 affected brothers, we cannot distinguish between autosomal and X-linked recessive inheritance.
Gurrieri
F
F
Istituto di Genetica Umana, Catholic University, A. Gemelli School of Medicine, Roma, Italy.
Sammito
V
V
Ricci
B
B
Iossa
M
M
Bellussi
A
A
Neri
G
G
D000328:Adult; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D012160:Retina / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*