Constrictive pericarditis with siblings (mulibrey nanism) dwarfism in two

Two siblings with marked dwarfism, now 11 and 19 years of age, have been followed from infancy. The girl had frequent episodes of pneumonitis and presented at age 4 years with hepatic enlargement and ascites which proved to be due to constrictive pericarditis. The boy presented with growth failure and pseudohydrocephalus. He had fibrous dysplasia of the tibia and a pathologic fracture; acute hepatic congestion followed physical activity at age 13 years and led to the diagnosis of constrictive pericarditis. Muscle function was normal, there was no evidence for a primary liver disorder, and mental development was normal so that the coined word "'mulibrey" seemed inappropriate. Pericardiectomy produced only partial improvement," both patients have hepatic enlargement and continue to need diuretics. A third patient with dwarfism, frequent respiratory infections, and pericardial calcification has certain features of the syndrome. "MULIBREY" is a word coined from the words muscle, liver, brain, and eye, and nanism is derived from the Greek nanos (dwarf). Perheentupa and associates 1, ~ used this term to describe a syndrome the main features of which were dwarfism and constrictive pericarditi s. We have followed from infancy two siblings, now aged 11 and 19 years, respectively, with this syndrome. Each of them presented with unusually shaped skulls and dwarfism, and each subsequently required surgical intervention for constrictive pericarditis. We are following an additional unrelated patient who may have an incomplete form of this syndrome. CASE REPORTS Patient B. B. was born in 1963 following an uneventful, fullterm pregnancy. Delivery was uneventful, but because of slight duskiness and because her brother had dwarfism, she was examined particularly closely. Head circumference was 34 cm (fiftieth percentile) and birth weight was 2,240 gm. Clinical cardiac findings were normal, chest radiograph showed slight