Orginal article
Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism)

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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.

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Cited by (13)

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    2002, Mayo Clinic Proceedings
    Citation Excerpt :

    Perheentupa et al17 described mulibrey nanism in 1973 as an autosomal recessive syndrome with prenatal growth failure, triangular face, muscular hypotonicity, ocular pigmentation, and constrictive pericarditis. Two additional reports have noted constrictive pericarditis present in siblings.18,19 All affected patients expressed the characteristic skeletal abnormalities, although the present cohort does not demonstrate such features.

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