Cyclopia-synotia: an unusual presentation.
An infant showing an unusual combination of craniofacial abnormalities is described. Synotia, astomia, a rudimentary proboscis, and a central placode in the hairline were observed. Serial sections of the head were examined microscopically. The proboscis contained a mass of striated muscle, but no bony or nervous tissue. Cyclopia was suggested by the central placode, the latter consisting of a thin, stratified, squamous nonkeratinized epithelium attached to an incomplete orbit by a strand of connective tissue. The orbit consisted of a bony shelf with bundles of nerves, striated muscle, and degenerate retinal tissue. The central nervous system cranial to the hindbrain was poorly developed. The midbrain and diencephalon were rudimentary, and there was poor separation of the small cerebral hemispheres. The auditory system was well represented. The maxilla and mandible were present, but there was no evidence of tooth formation. The wide range of midline abnormalities and anodontia suggest that this is a case of cranial neural crest deficiency.
Kramer
B
B
Department of General Anatomy, School of Dentistry, University of the Witwatersrand, Johannesburg, South Africa.
Stein
B A
BA
Grace
H J
HJ
D000848:Anodontia / Q000150:complications; D001921:Brain / Q000473:pathology; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009666:Nose / Q000002:abnormalities; D009915:Orbit / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome