We report the case of a boy with the Johanson-Blizzard syndrome who died at the age of 8 years with complications of pancreatic exocrine insufficiency, and at autopsy was found to have a small thyroid filled with colloid, virtually complete replacement of the pancreas with adipose tissue, and a brain of normal size but with evidence of a cortical developmental defect consisting of abnormalities of gyral formation and of cortical neuronal organization. In addition the boy had postnatal growth failure, apparent severe mental retardation, congenital scalp defects and scalp hair patterning abnormalities, aplasia of the nasal alae, nasolacrimo-cutaneous fistulae, hypotonia, severe congenital sensorineural deafness, and small conical and widely spaced teeth. Evidence is accumulating that this syndrome is likely to be inherited as an autosomal recessive disorder. Our case represents the first report of autopsy findings in the syndrome.

The light-microscopic and ultrastructural features of a paravaginal epithelioid smooth muscle tumor that contained prominent myxoid stroma are reported. Because of its prominent myxoid component and the soft tissue location, this tumor was difficult to classify by histologic features alone. The ultrastructural studies demonstrated a constellation of features that have been accepted to be indicative of smooth muscle origin. The histogenesis and differential diagnosis are discussed. The elucidation of the biologic behavior of this peculiar variant of smooth muscle tumor awaits accumulation of further cases.

Recognition of a twin pregnancy in a balanced translocation carrier constituted the basis for referral for prenatal diagnosis. She and her husband were 25 years old, phenotypically normal, and not consanguineous.Their first pregnancy had produced a stillborn female with a multiple congenital anomalies (MCA) syndrome at 35 weeks of gestation. The fetus weighed 1,790 g, and measured 43 cm from crown to heel, 29.3 cm from crown to rump, and 29.1 cm in occipitofrontal circumference (OFC). The placenta weighed 380 g with the fetal surface showing the normal vascular pattern and the cord containing the usual three vessels. The anomalies included 1) anophthalmia, with absent optic nerves and lateral geniculate bodies; 2) absent olfactory bulbs and striae; 3) unilaterally open temporal lobe operculum; 4) "fused pluricystic, hypoplastic kidneys," which weighed 9 g (normal = 16 g); 5 ) hypoplastic lungs, weighing 16 g (normal = 38 g); 6) kypho-