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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.
Clinical features
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%)
Associated diseases
Wilms' tumour Cystic dysplasia of bone (usually the tibia)
Management
- 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 & references
- Perpheentupa J, Autio S, Leisti S, et al; Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet. 1973 Aug 18 2(7825):351-5.
- Mulibrey Nanism, Online Mendelian Inheritance in Man (OMIM)
- Karlberg N, Jalanko H, Perheentupa J, et al; Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet. 2004 Feb 41(2):92-8.
- 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. 1975 11(2):3-17.
- 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 10 107(22):2810-5. Epub 2003 May 19.
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