Sindrome di Fraser OMIM 219000
Sindrome di Fraser OMIM 219000
E' una sindrome trasmessa con carattere autosomico recessivo legata a mutazioni del gene FRAS1 che mappa in 4q21.
E' caratterizzata da sindattilia, anomalie cranio-facciali e anomalie del tratto urogenitale. Le anomalie cranio-facciali sono caratterizzate da criptoftalmo, bilaterale o unilaterale, labiopalatoschisi monolaterale, malformazioni dei dotti lacrimali, anomalie dell'orecchio con conseguente sordità congenita, atresia laringea, palato ogivale. Le anomalie dell'apparato urogenitale sono rappresentate da anomalie dei genitali, con atresia della vagina, utero bicorne, ipertrofia clitoridea nelle femmine, ipospadia, criptorchidismo, pene piccolo nei maschi; agenesia/displasia renale uni/bilaterale.
Possono essere presenti cardiopatie congenite, anomalie cerebrali (ipoplasia del verme cerebellare).
La prognosi è legata alla severità delle anomalie renali e laringee.
La diagnosi ecografica si basa sulla presenza di microftalmia, sindattilia, polmoni iperecogeni aumentati di volume, oligoidramnios, labiopalatoschisi, agenesia renale bilaterate, cardiopatie congenite, ipoplasia del verme cerebellare.
Bibliografia
Amr S. S. Unilateral cryptophthalmos with renal agenesis
and syndactyly (Fraser syndrome): report of a case with review of the
literature. Saudi Med. J. 17: 251-255, 1996.
Andiran, F., Tanyel, F.C., Hicsonmez, A. Fraser syndrome
associated with anterior urethral atresia. (Letter) Am. J. Med. Genet. 82:
359-361, 1999.
Boyd, P. A., Keeling, J. W., Lindenbaum, R. H. Fraser
syndrome (cryptophthalmos-syndactyly syndrome): a review of eleven cases with
postmortem findings. Am. J. Med. Genet. 31: 159-168, 1988.
Cavalcanti, D. P., Matejas, V., Luquetti, D., Mello, M. F.,
Zenker, M. Fraser and ablepharon macrostomia phenotypes: concurrence in one
family and association with mutated FRAS1. Am. J. Med. Genet. 143A: 241-247,
2007.
Elcioglu, H. N., Berry, A. C. Fraser syndrome: diagnosed in
a 50-year-old museum specimen. (Letter) Am. J. Med. Genet. 94: 262-264, 2000.
Francannet, C., Lefrancois, P., Dechelotte, P., Robert, E., Malpuech,
G., Robert, J. M. Fraser syndrome with renal agenesis in two consanguineous
Turkish families. Am. J. Med. Genet. 36: 477-479, 1990.
Gattuso, J., Patton, M. A., Baraitser, M. The clinical
spectrum of the Fraser syndrome: report of three new cases and review. J. Med.
Genet. 24: 549-555, 1987.
Koenig, R., Spranger, J. Cryptophthalmos-syndactyly syndrome
without cryptophthalmos. Clin. Genet. 29: 413-416, 1986.
McGregor, L., Makela, V., Darling, et al.: Fraser syndrome and mouse blebbed
phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular
matrix protein. Nature Genet. 34: 203-208, 2003.
Mortimer, G., McEwan, H. P., Yates, J. R. W. Fraser syndrome
presenting as monozygotic twins with bilateral renal agenesis. J. Med. Genet.
22: 76-78, 1985.
Pankau, R., Partsch, C. J., Janig, U., Meinecke, R. Fraser
(cryptophthalmos-syndactyly) syndrome: a case with bilateral anophthalmia but
presence of normal eyelids. Genet. Counsel. 5: 191-194, 1994.
Ramsing, M., Rehder, H., Holzgreve, W., Meinecke, P., Lenz,
W. Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.
Clin. Genet. 37: 84-96, 1990.
Schauer, G. M., Dunn, L. K., Godmilow, L., Eagle, R. C.,
Jr., Knisely, A. S. Prenatal diagnosis of Fraser syndrome at 18.5 weeks
gestation, with autopsy findings at 19 weeks. Am. J. Med. Genet. 37: 583-591,
1990.
Slavotinek, A. M., Tifft, C. J. Fraser syndrome and
cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic
modules in complex malformation syndromes. J. Med. Genet. 39: 623-633, 2002.
Stevens, C. A., McClanahan, C., Steck, A., Shiel, F. O'M.,
Carey, J. C. Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome. Am.
J. Med. Genet. 52: 427-431, 1994.
van Haelst, M. M., Maiburg, M., Baujat, G., Jadeja, S.,
Monti, E., Bland, E., Pearce, K., Fraser Syndrome Collaboration Group,
Hennekam, R. C., Scambler, P. J. Molecular study of 33 families with Fraser
syndrome: new data and mutation review. Am. J. Med. Genet. 146A: 2252-2257,
2008.
van Haelst, M. M., Scambler, P. J., Fraser Syndrome
Collaboration Group, Hennekam, R. C. M. Fraser syndrome: a clinical study of 59
cases and evaluation of diagnostic criteria. Am. J. Med. Genet. 143A:
3194-3203, 2007.
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