Bilateral microphthalmia with cyst, facial clefts, and limb anomalies: a new syndrome with features of Waardenburg syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia.
We report a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. This patient has clinical features similar to Waardenburg ophthalmo-acromelic syndrome, cerebro-oculo-nasal syndrome, and craniotelencephalic dysplasia. Although all of these syndromes are characterized by microphthalmia, the presently reported patient does not have the complete pattern of any of these syndromes, It is possible that he has a previously undescribed syndrome, most closely related to the cerebro-oculo-nasal syndrome with malformations outside the craniofacial region. More case reports are needed to further delineate this possibly new syndrome.
Gupta
P C
PC
Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA.
Peralta
D
D
Parker
M
M
Crowe
C
C
Clark
B
B
Traboulsi
E I
EI
D000015:Abnormalities, Multiple / Q000473:pathology*; D001921:Brain / Q000002:abnormalities; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000473:pathology; D003560:Cysts / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology; D006801:Humans; D017880:Limb Deformities, Congenital / Q000473:pathology*; D008297:Male; D008850:Microphthalmos / Q000473:pathology*; D009666:Nose / Q000002:abnormalities; D013577:Syndrome; D013687:Telencephalon / Q000002:abnormalities; D014849:Waardenburg Syndrome / Q000473:pathology