MULIBREY NANISM- NANISM 6 REFERENCES Avela K et al. Gene encoding a new RING-B-box RING box-Coiled Coiled coil protein is mutated in mulibrey nanism. nanism. Nature Genetics 2000;25:298- 2000;25:298 301. Balg S et al. Mulibrey nanism. nanism. Clin Dysmorphol 1995;4:63-69. 1995;4:63 69. Hamalainen RH et al. Wilms’ Wilms tumor and novel TRIM37 mutations in an Australian patient with mulibrey namism. namism. Clin Genet 2006 479. 70:473- 70:473 Jagiello P et al. A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity. Hum Mutat 2003; 21:630-635. 21:630 635. Karlberg N et al. Mulibrey nanism: nanism: clinical features and diagnostic criteria. J Med Genet 2004;41:92-98. 2004;41:92 98. Karlberg N e al. Failure of sexual maturation in mulibrey nanism. nanism. NEJM 2004; 351:2559-2560. 351:2559 2560. Lapunzina P et al. Mulibrey nanism: nanism: three additional patients and a review of 39 patients. Am J Med Genet 1995;55:349-355. 1995;55:349 355.
3 – M Miller iller McKusick cKusick Malvaux alvaux et al. 1975 Relatively large head, dolicocephaly, dolicocephaly, with frontal bossing, 50 th centile for age Short broad neck with prominent trapezius, trapezius, square shoulders Deformed sternum, short thorax Transverse grooves on anterior chest, flaring of bottom of chest, transverse ribs Square shoulders with winged scapulae Triangular face, hypoplastic midface, midface, long philtrum, philtrum, prominent lips, “gloomy gloomy facies” facies