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Mulibrey nanism.

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).
AuthorsS Balg, S Stengel-Rutkowski, C Döhlemann, K Boergen
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 4 Issue 1 Pg. 63-9 (Jan 1995) ISSN: 0962-8827 [Print] England
PMID7735507 (Publication Type: Case Reports, Journal Article)
Topics
  • Child, Preschool
  • Dwarfism (diagnosis, genetics, pathology)
  • Eye Abnormalities (genetics)
  • Face (abnormalities)
  • Humans
  • Male
  • Pericarditis, Constrictive (genetics)
  • Phenotype
  • Syndrome

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