Note the low-set ears, low nasal bridge, long forehead and widely spaced nipples. This case reemphasizes the association of fetal aneuploidy with sonographic findings of growth delay and dysmorphology. The spectrum of fetal affectation by 8p- deletion may depend in part on where the actual chromosome breakpoints occur. These infants present with microcephaly, a narrow head with high forehead, epicanthal folds, low nasal bridge and micrognathia. Aside from ventricluar septal defects, they may have pulmonary stenosis.
Growth retardation continues after birth as failure to thrive.
Mental retardation and speech difficulties are also present. This chromosomal abnormality has not been previously reported in association with diaphragmatic hernia. There is insufficient data on 8p- deletion in the literature to determine recurrence risks for subsequent offspring. Prenatal diagnosis should be offered in any subsequent pregnancy. New cytogenetic techniques applied to a series of children with mental retardation.