In a previous report of a patient with partial deletion of chromosome 8 and atrioventricular canal (AVC), review of the pertinent literature showed a high prevalence of AVC in 8p-syndrome and suggested a nonrandom association of the 2 conditions [Marino et al., 19921. Recently we observed an additional patient with 8p-syndrome who had a complete AVC with pulmonary stenosis.
The propositus was the second child born to a 35-yearold mother and a 37-year-old father. The parents were healthy and nonconsanguineous. The baby was delivered at 38 weeks of an uneventful gestation by cesarean section. Birth weight was 2,400 g, lengih 48 cm, head circumference 31 cm (al1 values below the 3rd centile). He was evaluated by us shortly after birth. Physical examination showed microcephaly, sparse eyebrows, periorbital fullness, horizontal palpebral fissures, epicanthic folds, hypertelorism, prominent nasal bridge, short nose, microstomia, narrow palate, low-set malformed ears, short neck, wide-set nipples, scrotal hypospadias. On examination at age 6 months no additional phenotypic anomalies were noted. Psychomotor development was delayed.
Chromosome analysis on peripheral blood cultures showed a 46,XY,de1(8)(p21) karyotype. Chromosomal studies of the parents were normal. Two-dimensional echocardiography demonstrated a complete AVC, valvu-Fig. 1. Deleted bands in 8p-patients with and without AVC.