Cerebro-oculo-facio-skeletal (COFS) syndrome in siblings.
The authors report two sibs with COFS syndrome and review the relevant literature in brief. They emphasize the importance of prenatal diagnosis in this syndrome that has many mimics.
Kulkarni
M L
ML
Department of Pediatrics, JJM Medical College, Davangere, Karnataka, India.
Sehgal
Anuj
A
Keshavamurthy
K S
KS
Kulkarni
Preeti M
PM
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities*; D001921:Brain / Q000002:abnormalities*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome