Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes?
In this paper we present two female newborns with the cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms and differences in clinical evolution of the two infants favour the suggestion of Preus that two subtypes of this autosomal recessive inherited syndrome may exist.
Casteels
I
I
Department of Ophthalmology, University Hospitals, Leuven, Belgium.
Wijnants
A
A
Casaer
P
P
Eggermont
E
E
Misotten
L
L
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000175:diagnosis / Q000235:genetics; D002508:Cephalometry; D005147:Facial Bones / Q000002:abnormalities*; D005183:Failure to Thrive / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007621:Karyotyping; D008831:Microcephaly / Q000175:diagnosis / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome