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Synonyms: muscle-liver-brain-eye nanism, pericardial constriction and growth failure, Perheentupa syndrome[1]

This is a rare autosomal recessive disorder caused by a mutation in a gene on chromosome 17.[2] The name Mulibrey is an acronym:

  • MU scle
  • LI ver
  • BR ain
  • EY es

Nanism is defined as a genetic abnormality which results in short stature.

Feeding difficulties and respiratory tract infections are the most common problems in infancy.[3]

  • Growth failure of prenatal origin and congenital short stature[4]
  • Hydrocephaloid skull
  • Hypotonia
  • Cutaneous naevi flammei (65%)
  • Peculiar high pitched voice (96%)
  • Normal intelligence
  • Face: scaphocephaly, triangular face, high and broad forehead, high palate, small chin and low nasal bridge (over 90% of patients)
  • Eyes: widely-spaced, fundi showing yellow dots and dispersed pigment, hypoplasia of the choroid, strabismus, astigmatism
  • Abdomen: hepatomegaly (45%)
  • Cardiovascular:
    • Most cases show pericardial constriction due to thickening of the pericardium.
    • Myocardial hypertrophy, and variable myocardial fibrosis are also seen.
    • At least 50% of patients eventually develop heart failure.
  • Fibrous dysplasia of long bones (25%)

Wilms' tumour Cystic dysplasia of bone (usually the tibia)

  • Supportive
  • Pericardiectomy: this usually provides clinical benefit, but 33% patients have recurring congestive heart failure, because of co-existing myocardial involvement[5]

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Further reading and references

  1. Perpheentupa J, Autio S, Leisti S, et al; Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet. 1973 Aug 182(7825):351-5.

  2. Mulibrey Nanism, Online Mendelian Inheritance in Man (OMIM)

  3. Karlberg N, Jalanko H, Perheentupa J, et al; Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet. 2004 Feb41(2):92-8.

  4. Perheentupa J, Autio S, Leisti S, et al; Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome. Birth Defects Orig Artic Ser. 197511(2):3-17.

  5. Lipsanen-Nyman M, Perheentupa J, Rapola J, et al; Mulibrey heart disease: clinical manifestations, long-term course, and results of pericardiectomy in a series of 49 patients born before 1985. Circulation. 2003 Jun 10107(22):2810-5. Epub 2003 May 19.