A male propositus and an older sister had a similar pattern of congenital anomalies, including facial asymmetry with hypertelorism, frontal bossing and temporal narrowness, a broad nasal bridge, epicanthal folds, a wide mouth with a thin upper lip, micrognathia, webbed neck, low-set posteriorly angulated ears, and an abnormal hairline. There was also postaxial polydactyly, flexion contractures of the digits, hypotonia, and a congenital heart anomaly. The propositus also had renal anomalies whereas the sister did not, and the sister had a cleft lip and palate not present in her brother. The propositus and a subsequent fetus identified through genetic amniocentesis were determined to have a 46, XY, -18, +der(18),t(17;18)(q25.1;q23)mat chromosome constitution. Clinical findings are compared to those of other reported cases of dup(17q).

We present the first reported pregnancy in a woman with the Brachmann-de Lange syndrome. This 24-year-old primagravid woman was originally seen at 13 weeks of pregnancy with manifestations consistent with this diagnosis. High-resolution chromosome studies, performed on lymphocytes, showed a normal 46,XX chromosome constitution. Because of the stage of pregnancy at which she presented, a genetic amniocentesis was simultaneously performed for chromosome analysis on the fetal cells, which were also normal (46,XX). The uncomplicated pregnancy was monitored carefully and at 37 1/2 weeks of gestation she delivered a clinically normal-appearing female infant.

Data from questionnaires were assembled for 109 infants with phenylketonuria (PKU) and 114 control infants to assess the predictive validity of newborn screening for PKU as a function of age. Patients with PKU had values of <4 mg/dL in cord blood and in samples from days 1, 2, and 4 through 7. The proportion of patients with PKU expected to fall below screening cutoffs of 2, 4, and 6 mg/dL was predicted for each age range. Using a cutoff of 4 mg/dL, approximately one third of patients with PKU would be missed by a sample taken from the neonate in the first 12 hours of life, and nearly 10% would be missed with a sample from the second 12 hours of life. This study shows that not all patients with PKU will be detected by newborn screening, and that the phenomenon of early nursery discharges must be considered in developing appropriate screening strategies.