Mulibrey nanism syndrome (perheentupa syndrome)

General: Autosomal recessive inheritance; progressive growth failure; myocardial 424b12e fibrosis.

Ocular: Alternating esotropia and exotropia; yellowish retinal dots and scattered pigment dispersion in clusters (especially in the midperiphery); drusen of Bruch membrane; hypoplasia of choriocapillaries (diagnostic sign).

Clinical: Triangular face with bulging forehead and low, broad nasal bridge; hypotonia; hepatomegaly; ascites; pulmonary congestion; cardiac enlargement with possible heart failure; pericardial constriction; dwarfism; immunoglobulin deficiency; isolated growth hormone deficiency.

Haraldsson A. Antibody deficiency and isolated growth hormone a deficiency in a girl with Mulibrey nanism. Eur J Pediatr 1993; 152:509-512.

Lapunzina P, et al. Mulibrey nanism: three additional patients and a review of 39 patients. Am J Med Genet 1995; 55: 349-355.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Perheentupa J, et al. Mulibrey nanism dwarfism with muscle, liver, brain and eye involvement. Acta Paediatr Scand 1970; 59:74.

Raitta C, Perheentupa J. Mulibrey nanism: an inherited dysmorphic syndrome with characteristic ocular findings. Acta Ophthalmol Suppl (Copenh) 1974; 123:162.