As recently noted in this journal [Lin et al., 19931, one of the patients with Baller-Gerold syndrome (patient 20) died of pneumonia at age 12 months. Manifestations noted before her death were growth and developmental delay, overriding metopic suture, congenital subglottic stenosis, tetralogy of Fallot, pulmonary atresia, agenesis of the left kidney, hypoplasia of the left radius, and absent left thumb.
With parental permission, a detailed postmortem examination additionally showed a small abnormal brain with thin corpus callosum, crowded small gyri, poor inward folding of the hippocampi, hypoplasia of the olfactory bulbs and tracts, leptomeningeal glioneuronal heterotopias at the base of the hypothalamus, secondary hypertrophic cardiomegaly, persistent left superior vena cava draining into a dilated unroofed coronary sinus leading to the draining of venous blood into the left atrium, absent left brachiocephalic vein, compensatory hypertrophic right kidney (81 g, expected for age 36 g), agenesis of the left ureter, small flattened left adrenal gland (right 2.7 g, left 1.9 g, combined normal 6 g) with laminar necrosis of zone glomerulosa and agenesis of the left fallopian tube. The histology of all tissues studied was normal.
Pathological reports of internal malformations have been documented in 3 patients with Baller-Gerold syndrome [Greitzer et al., 1974; Woon et al., 19801. Our additional anatomic findings extend the range of manifestations noted in this malformation syndrome. These findings support the hypothesis that the mutant gene for this disorder results in highly variable effects on the phenotype. It is unclear why there is a preponderance of left-sided anatomic abnormalities in this patient. We believe that individuals with Baller-Gerold syndrome should be carefully evaluated for other coexisting structural defects, especially those of a vascular disruptive developmental pathogenesis. Also we suggest that postmortem examination of Baller-Gerold patients be encouraged as this may lead to better diagnosis and clearer understanding of the natural history of the syndrome.