Is it a new syndrome or a clinical variability in cerebro-oculo-nasal syndrome?
We present a male infant 2.5-months old with asymmetric skull, anophthalmia, apparent hypertelorism, abnormal nares, unilateral cleft lip and palate, and structural abnormalities of the central nervous system. These findings are similar to cerebro-oculo-nasal syndrome except for the appearance of nose. This case is either a clinical variability in cerebro-oculo-nasal syndrome or a new entity.
Semerci
C Nur
CN
Department of Genetics, Zübeyde Hanim Maternity Hospital, Ankara, Turkey. nsemerci@hotmail.com
Zorlu
Pelin
P
Topal
Yasar
Y
Izbudak
Izlem
I
Karacan
Candemir
C
Balci
Sevim
S
D000015:Abnormalities, Multiple / Q000473:pathology*; D000853:Anophthalmos / Q000473:pathology; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology; D005124:Eye Abnormalities / Q000473:pathology*; D006801:Humans; D006972:Hypertelorism / Q000473:pathology; D007223:Infant; D008297:Male; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed