Möbius' syndrome is a rare congenital anomaly characterized by paralysis of the 7th and other cranial nerves and musculoskeletal abnormalities. We report a patient with Möbius' syndrome associated with arthrogryposis and mega cisterna magna in addition to the classic components of this syndrome. The case is interesting because she developed Wilms' tumor at 21 months of age. To our knowledge, this is the first case of this association reported in the literature. (J Child Neurol 2004;19:67—70).
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References
1.
Grundy PE, Green DM, Max JC, et al: Renal tumors, in Pizzo PA, Poplack D (eds): Principles and Practice of Pediatric Oncology. Philadelphia, Lippincott Williams & Wilkins, 2002, 865—893.
2.
Clericuzio CL , Johnson C.: Screening for Wilms' tumor in high-risk individuals . Hematol Oncol Clin North Am1995;9:1253—1266.
3.
Strömland K. , Sjögreen L., Miller M., et al: Möbius sequence—A Swedish multidiscipline study. Eur J Paediatr Neurol2002;6:35—45.
4.
Sudarshan A. , Goldie WD: The spectrum of congenital facial diplegia (Moebius syndrome). Pediatr Neurol1985; 1: 180—184.
5.
Peleg D., Nelson GM, Williamson RA, Widness JA: Expanded Mobius syndrome. Pediatr Neurol2001 ;24:306—309.
6.
Matsunaga Y. , Amamoto N., Kondoh T., et al: A severe case of Moebius syndrome with calcification on the fourth ventricular floor. J Hum Genet1998;43:62—64.
7.
Stiller CA, Lennox EL, Wilson LM: Incidence of cardiac septal defects in children with Wilms' tumor and other malignant disease. Carcinogenesis1987;8:129—132.
8.
Towfighi J., Marks K., Palmer E., Vannucci R.: Mobius syndrome, neuropathologic observations. Acta Neuropathol (Berl) 1979;48:11—7.
9.
D'Cruz OF, Swisher CN, Jaradeh S., et al: Mobius syndrome: Evidence for vascular etiology. J Child Neurol1993;8:260—265.
10.
Yoon KH, Yoo SJ, Suh DC, et al: Mobius syndrome with brain stem calcification: Prenatal and neonatal sonographic findings. Pediatr Radiol1997;27:150—152.
11.
Carr MM, Ross DA, Zuker RM: Cranial nerve defects in congenital facial palsy. J Otolaryngol1997;26:80—87.
12.
Graf WD, Shepard TH: Uterine contraction in the development of Möbius syndrome. J Child Neurol1997;12:225—227.
13.
Bouwes Bjn, Weaver DD: Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil and Möbius anomalies. Am J Med Genet1986;23:903—919.
14.
Jones KL: Smith's Recognizable Patterns of Human Malformation. Philadelphia , WB Saunders Company, 1988.
15.
Pedraza S., Gamez J., Rovira A., et al: MRI findings in Moebius syndrome: Correlation with clinical features. Neurology2000;55:1058—1060.
16.
Harbord MG, Finn JP, Hall-Craggs MA, et al: Moebius syndrome with unilateral cerebellar hypoplasia. J Med Genet1989;26:579—582.
17.
Slee JJ, Smart RD, Viljoen DL: Deletion of chromosome 13 in Moebius syndrome. J Med Genet1991;28:413—414.
18.
Kremer H., Kuyt LP, van den Helm B., et al: Localization of gene for Moebius syndrome to chromosome 3q by linkage analysis in a Dutch family. Hum Mol Genet1996;5:1367—1371.
19.
Verzijl Htfm , van den Helm B., Veldman B., et al: A second gene for autosomal dominant Moebius syndrome is localized to chromosome 10 q, in a Dutch family. Am J Hum Genet1999;65:752—756.
20.
Coppes MJ, Pritchard—Jones K: Principles of Wilms' tumor biology. Urol Clin North Am2000;27:423—433.
21.
White Grm, Kelsey AM, Varley IM, Birch JM: Somatic glypican 3 (GPC3) mutations in Wilms' tumor. Br J Cancer2002;86:1920—1922.
22.
Xuan JY, Hughes- Benzie RM, MacKenzie AE: A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family . J Med Genet1991;36:57—58.
23.
Kreidberg JA , Sariola H., Loring JM, et al: WT-1 is required for early kidney development. Cell1993;74:679—691.
24.
Pelletier J. , Bruening W., Li FP, et al: WT1 mutations contribute to abnormal genital system development and hereditary Wilms tumor . Nature1991;353:431—434.
25.
Hargrava M. , James K., Nield K., et al: Fine mapping of the neurally expressed gene SOX14 to human 3 q23 relative to three congenital disease. Hum Genet2000;106:432—439.
26.
Altura RA, Valentine M., Li H., et al: Identification of novel regions of deletion in familial Wilms' tumor by comparative genomic hybridization. Cancer Res1996;56:3837—3841.
