+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome



Mulibrey nanism: review of 23 cases of a new autosomal recessive syndrome



Birth Defects Original Article Series 11(2): 3-17



Mulibrey (muscle, liver, brain, eye) nanism is probably an autosomal recessive condition characterized by progressive growth failure of prenatal onset, triangular face with hydrocephaloid skull, general thinness and muscular hypotonicity, peculiar voice, venous congestion caused by pericardial constriction, and pigment dispersion and yellowish dots in ocular fundi. Two thirds of the patients had cutaneous nevi flammei and one third cystic fibrous dysplasia of the tibia. Probably a substantial portion of the affected are lost by early abortion and others by infantile death. The physical capacity and life expectancy seem to vary depending on the degree of the cardiac affection.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 026999227

Download citation: RISBibTeXText

PMID: 1227534


Related references

Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet 2(7825): 351-355, 1973

Mulibrey nanism an autosomal recessive syndrome with ocular involvement. Acta Ophthalmologica 60(4): 628-633, 1982

Mulibrey nanism clinico pathological characterization of an autosomal recessive syndrome with fibroblast studies. Teratology 10(3): 320, 1974

The cardiopathy of mulibrey nanism, a new inherited syndrome. Chest 65(6): 628-631, 1974

Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome. Pediatrie 43(3): 197-203, 1988

Growth failure with pericardial constriction. The syndrome of mulibrey nanism. American Journal of Diseases of Children 130(10): 1146-1148, 1976

Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. Acta Ophthalmologica. Supplementum 123: 162-171, 1974

Syndrome Mulibrey Nanism. A case report and autopsy findings in a 8-month-old girl. Klinische Padiatrie 193(4): 328-330, 1981

Construction of a physical map in the Meckel syndrome and Mulibrey Nanism critical region on chromosome 17q22. European Journal of Human Genetics 6(Suppl. 1): 133, 1998

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. Genome Research 9(3): 267-276, 1999

Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. Journal of Medical Genetics 21(2): 103-107, 1984

Mulibrey nanism: three additional patients and a review of 39 patients. American Journal of Medical Genetics 55(3): 349-355, 1995

Mulibrey nanism. Clinical Dysmorphology 4(1): 63-69, 1995

Two new cases of Cumming syndrome confirming autosomal recessive inheritance. American Journal of Medical Genetics 82(4): 340-343, 1999