Sindrome di Robinov o Nanismo mesomelico di Robinow OMIM 180700

Sindrome di Robinov o Nanismo mesomelico di Robinow  OMIM 180700

La Sindrome di Robinow o nanismo mesomelico di Robinov è una malattia genetica rara caratterizzata da: 1) displasia mesomelica che interessa principalmente gli arti superiori; 2) dimorfismi facciali con fronte prominente, ipertelorismo e micrognatia; 3) displasia acromelica con dita corte e tozze; 4) anomalie vertebrali; 5) genitali piccoli. 

Sono state descritte due forme: una forma autosomica dominante (dovuta a mutazioni del gene WNT5A) con segni clinici più lievi e una forma autosomica recessiva più grave (dovuta a mutazioni del gene (ROR2). 

 Bain, M. D., Winter, R. M., Burn, J. Robinow syndrome without mesomelic 'brachymelia': a report of five cases. J. Med. Genet. 23: 350-354, 1986. 
Balci, S., Ercal, M. D., Say, B., Tuncer, M., Oran, O., Sarikayalar, F. Robinow syndrome: fourteen cases with special emphasis on dermatoglyphics of ten and hand malformations (split hand) of three of them. (Abstract) Am. J. Hum. Genet. 49 (suppl.): 127 only, 1991.
Baxova, A., Izakovic, V., Luptakova, Z., Dibarborova, K. Two cases of the Robinow syndrome with mental retardation. Cesk. Pediat. 44: 543-546, 1989.
Beiraghi, S., Leon-Salazar, V., Larson, B. E., John, M. T., Cunningham, M. L., Petryk, A., Lohr, J. L. Craniofacial and intraoral phenotype of Robinow syndrome forms. Clin. Genet. 80: 15-24, 2011. 
Butler, M. G., Wadlington, W. B. Robinow syndrome: report of two patients and review of literature. Clin. Genet. 31: 77-85, 1987. 
Israel, H., Johnson, G. F. Craniofacial pattern similarities and additional orofacial findings in siblings with the Robinow syndrome. J. Craniofac. Genet. Dev. Biol. 8: 63-73, 1988.
Kantaputra, P. N., Gorlin, R. J., Ukarapol, N., Unachak, K., Sudasna, J. Robinow (fetal face) syndrome: report of a boy with dominant type and an infant with recessive type. Am. J. Med. Genet. 84: 1-7, 1999.
Kelly, T. E., Benson, R., Temtamy, S. A., Plotnick, L., Levin, S. The Robinow syndrome: an isolated case with a detailed study of the phenotype. Am. J. Dis. Child. 129: 383-386, 1975.
Mazzeu, J. F., Pardono, E., Vianna-Morgante, A. M., Richieri-Costa, A., Kim, C. A., Brunoni, D., Martelli, L., de Andrade, C. E. F., Colin, G., Otto, P. A. Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome. Am. J. Med. Genet. 143A: 320-325, 2007.
Patton, M. A., Afzal, A. R. Robinow syndrome. J. Med. Genet. 39: 305-310, 2002.
Petit, P., Fryns, J. P., Goddeeris, P., Perlmutter-Cremer, N. The Robinow syndrome. Ann. Genet. 23: 221-223, 1980.
Robinow, M. Syndrome's progress. Am. J. Dis. Child. 126: 150 only, 1973.
Robinow, M. Fetal face syndrome.In: Bergsma, D. : Birth Defects: Atlas and Compendium. Baltimore: Williams and Wilkins (pub.) 1973. Pp. 410-41
Robinow, M., Silverman, F. N., Smith, H. D. A newly recognized dwarfing syndrome. Am. J. Dis. Child. 117: 645-651, 1969. 
Turken, A., Balci, S., Senocak, M. E., Hicsonmez, A. A large inguinal hernia with undescended testes and micropenis in Robinow syndrome. Clin. Dysmorph. 5: 175-178, 1996.
Vallee, L., Van Nerom, P. Y., Ferraz, F. G., Delecour, M., Maroteaux, P., Farriaux, J. P., Fontaine, G. Syndrome de Robinow a transmission dominante. Arch. Franc. Pediat. 39: 447-448, 1982.
Vera-Roman, J. M. Robinow dwarfism syndrome accompanied by penile agenesis and hemivertebrae. Am. J. Dis. Child. 126: 206-208, 1973.
Wadlington, W. B., Tucker, V. L., Schimke, R. N. Mesomelic dwarfism with hemivertebrae and small genitalia (the Robinow syndrome). Am. J. Dis. Child. 126: 202-205, 1973.