Holoprosencephalic synophthalmia (cyclopia) in an 8 week fetus.
Histopathological examination of an 8-week-old human cyclopic fetus revealed holoprosencephaly, synophthalmia, and malformed midfacial features. The telencephalon was undivided and projected a single median optic stalk partially subdivided into optic vesicles contained in a single orbit. Aberrant midfacial ossification underlay arrhinia and uncleft lips and palate. Maxillary anodontia and mandibular hypodontia prevailed. Postcranial normality was disturbed by pedal postaxial hexadactyly, suggesting trisomy 13. The exceptionally young age of the specimen distinguishes its detailed analysis from the majority of older cyclopic specimens previously reported.
D000015:Abnormalities, Multiple / Q000196:embryology*; D001921:Brain / Q000002:abnormalities*; D005123:Eye / Q000196:embryology*; D005145:Face / Q000002:abnormalities; D006801:Humans