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Cebocephaly in an infant with trisomy 18
Journal of Medical Genetics
|August 1, 1977
Insights
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.
Abstract:
An infant who died in the perinatal period with the unusual association of trisomy 18 and cebocephaly is described. It is suggested that this association may be more common than is generally recognised because the majority of such infants are stillborn or live only briefly and often do not have chromosome studies performed.