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Case Reports
. 1995 Jan;4(1):63-9.

Mulibrey nanism

S Balg  1 , S Stengel-Rutkowski, C Döhlemann, K Boergen
Affiliations
  • PMID: 7735507
Case Reports

Mulibrey nanism

S Balg et al. Clin Dysmorphol. 1995 Jan.

Abstract

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).

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