Joint dislocation and cerebral anomalies are consistently associated with oral-facial-digital syndrome type IV.
We present a female patient with the oral-facial-digital syndrome type IV. Our report, the tenth in the literature, describes the typical manifestations of the syndrome, combined with malformations and deformations which have not always been described in the previously reported cases. They include cerebral and renal anomalies, anal atresia and dislocation of elbows and knees.
Digilio
M C
MC
Department of Medical Genetics, Bambino Gesu' Hospital, Rome, Italy.
Giannotti
A
A
Pagnotta
G
G
Mingarelli
R
R
Dallapiccola
B
B
D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D004551:Elbow Joint / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000235:genetics*; D007719:Knee Joint / Q000002:abnormalities*; D009056:Mouth Abnormalities / Q000235:genetics; D013577:Syndrome; D014034:Toes / Q000002:abnormalities