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Cebocephaly in an infant with trisomy 18
Journal of Medical Genetics
|August 1, 1977
Summary
Trisomy 18, a genetic condition, can be associated with cebocephaly, a facial abnormality. This rare combination in infants may be underdiagnosed due to stillbirth or early death before genetic testing.
Area of Science:
- Medical Genetics
- Developmental Biology
- Perinatal Medicine
Background:
- Trisomy 18 (Edwards syndrome) is a chromosomal disorder associated with significant congenital anomalies.
- Cebocephaly is a rare congenital facial malformation characterized by a single nasal opening and cyclopia.
- The co-occurrence of trisomy 18 and cebocephaly is infrequently reported.