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We experienced a case of holoprosencephaly with extracranial abnormalities, including orbital
hypotelorism, median cleft lip without philtrum, flat nasal bridge, flat face, and microcephaly and
with a karyotype, 46 XX, 22p+.
The diagnosis was confirmed by brain CT scan & brain ultrasonography, and the findings were
compatible with an alobar type of holoprosencephaly. The patients died at 26 days of age.
A brief review of... |
