1/4. Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism).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 "mulibray" 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.- - - - - - - - - - ranking = 1keywords = nanism (Clic here for more details about this article) |
2/4. growth failure with pericardial constriction. The syndrome of mulibrey nanism.The features of the syndrome of mulibrey nanism, an autosomal recessive disorder of unknown pathogenesis, include severe growth failure, yellow pigmentation of the retina, evidence of pericardial constriction, J-shaped sella turcica, and fibrous dysplasia of bones. To date, 24 individuals from finland and a boy from egypt have been reported with the syndrome. The patient reviewed in this article is the first known affected child from the united states. It is important that physicians look for this disorder in children with severe growth failure and hepatomegaly because of the potential seriousness of undetected pericardial constriction.- - - - - - - - - - ranking = 1.25keywords = nanism (Clic here for more details about this article) |
3/4. mulibrey nanism: three additional patients and a review of 39 patients.We report on 3 patients with mulibrey nanism (MN), or Perheentupa syndrome: the first 2 sibs from argentina and a new patient from spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and life-threatening abnormality in this syndrome. MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment.- - - - - - - - - - ranking = 1.25keywords = nanism (Clic here for more details about this article) |
4/4. mulibrey nanism.Investigation of a 4-year-old boy with 'Russell-silver-phenotype' led to the relatively rare diagnosis of mulibrey nanism. Subsequently cardiac investigation confirmed a constrictive pericarditis which is characteristic of this syndrome, although not included in the acronym (muscle, liver, brain, eye). Identification of this syndrome is important for genetic counselling of the parents (25% recurrence risk, McKusick No. 253250).- - - - - - - - - - ranking = 1.25keywords = nanism (Clic here for more details about this article) |