La sindrome di Fryns è una patologia trasmessa con carattere autosomico recessivo caratterizzata da ernia diaframmatica, anomalie facciali, deformità dei segmenti distali degli arti, anomalie cerebrali.
Può essere presente onfalocele.
Le anomalie facciali consistono in labiopalatoschisi e micrognazia. Le anomalie degli arti consistono in ipoplasia delle falangi distali. Le anomalie cerebrali comprendono l'agenesia del corpo calloso e l'idrocefalia.
Bibliografia
Alessandri, J. L., Brayer, C., Attali, T., Samperiz, S.,
Tiran-Rajaofera, I., Ramful, D., Pilorget, H. Fryns syndrome without
diaphragmatic hernia: report of a new case and review of the literature. Genet.
Counsel. 16: 363-370, 2005. Arnold, S. R., Debich-Spicer D, D., Opitz, J. M.,
Gilbert-Barness, E. Documentation of anomalies not previously described in
Fryns syndrome. Am. J. Med. Genet. 116A: 179-182, 2003. Bamforth, J. S., Leonard, C. O., Chodirker, B. N., Chitayat,
D., Gritter, H. L., Evans, J. A., Keena, B., Pantzar, T., Friedman, J. M.,
Hall, J. G. Congenital diaphragmatic hernia, coarse facies, and acral
hypoplasia: Fryns syndrome. Am. J. Med. Genet. 32: 93-99, 1987. Cunniff, C., Jones, K. L., Saal, H. M., Stern, H. J. Fryns
syndrome: an autosomal recessive disorder associated with craniofacial
anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics 85:
499-504, 1990. Dean, J. C. S., Couzin, D. A., Gray, E. S., Lloyd, D. J.,
Stephen, G. S. Apparent Fryns' syndrome and aneuploidy: evidence for a
disturbance of the midline developmental field. Clin. Genet. 40: 349-352, 1991.
Dentici, M. L., Brancati, F., Mingarelli, R., Dallapiccola,
B. A 6-year-old child with Fryns syndrome: further delineation of the natural
history of the condition in survivors. Europ. J. Med. Genet. 52: 421-425, 2009.
Fryns, J. P., Moerman, P. Scalp defects in Fryns syndrome.
(Letter) Genet. Counsel. 9: 153-154, 1998. Kantarci, S., Ackerman, K. G., Russell, M. K., Longoni, M.,
Sougnez, C., Noonan, K. M., Hatchwell, E., Zhang, X., Pieretti Vanmarcke, R.,
Anyane-Yeboa, K., Dickman, P., Wilson, J., Donahoe, P. K., Pober, B. R.
Characterization of the chromosome 1q41q42.12 region, and the candidate gene
DISP1, in patients with CDH. Am. J. Med. Genet. 152A: 2493-2504, 2010. Kantarci, S., Casavant, D., Prada, C., Russell, M., Byrne,
J., Haug, L. W., Jennings, R., Manning, S., Blaise, F., Boyd, T. K., Fryns, J.
P., Holmes, L. B., Donahoe, P. K., Lee, C., Kimonis, V., Pober, B. R. Findings
from aCGH in patients with congenital diaphragmatic hernia (CDH): a possible
locus for Fryns syndrome. Am. J. Med. Genet. 140A: 17-23, 2006. Note: Erratum:
Am. J. Med. Genet. 140A: 1031 only, 2006. Lin, A. E., Pober, B. R., Mullen, M. P., Slavotinek, A. M.
Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for
neural crest cells? Am. J. Med. Genet. 139A: 186-193, 2005. McPherson, E. W., Ketterer, D. M., Salsburey, D. J.
Pallister-Killian and Fryns syndromes: nosology. Am. J. Med. Genet. 47:
241-245, 1993. Pierson, D. M., Taboada, E., Butler, M. G. Eye abnormalities
in Fryns syndrome. Am. J. Med. Genet. 125A: 273-277, 2004. Ramsing, M., Gillessen-Kaesbach, G., Holzgreve, W., Fritz,
B., Rehder, H. Variability in the phenotypic expression of Fryns syndrome: a
report of two sibships. Am. J. Med. Genet. 95: 415-424, 2000. Riela, A. R., Thomas, I. T., Gonzalez, A. R., Ifft, R. D.
Fryns syndrome: neurologic findings in a survivor. J. Child Neurol. 10:
110-113, 1995. Rodriguez, J. I., Garcia, I., Alvarez, J., Delicado, A.,
Palacios, J. Lethal Pallister-Killian syndrome: phenotypic similarity with
Fryns syndrome. Am. J. Med. Genet. 53: 176-181, 1994. Slavotinek, A., Lee, S. S., Davis, R., Shrit, A., Leppig, K.
A., Rhim, J., Jasnosz, K., Albertson, D., Pinkel, D. Fryns syndrome phenotype
caused by chromosome microdeletions at 15q26.2 and 8p23.1. (Letter) J. Med.
Genet. 42: 730-736, 2005. Slavotinek, A. M. Fryns syndrome: a review of the phenotype
and diagnostic guidelines. Am. J. Med. Genet. 124A: 427-433, 2004. Van Hove, J. L. K., Spiridigliozzi, G. A., Heinz, R.,
McConkie-Rosell, A., Iafolla, K., Kahler, S. G. Fryns syndrome survivors and
neurologic outcome. Am. J. Med. Genet. 59: 334-340, 1995. Vargas, J. E., Cox, G. F., Korf, B. R. Discordant phenotype
in monozygotic twins with Fryns syndrome. Am. J. Med. Genet. 94: 42-45, 2000. Veldman, A., Schlosser, R., Allendorf, A., Fischer, D.,
Heller, K., Schaeff, B., Fuchs, S. Bilateral congenital diaphragmatic hernia:
differentiation between Pallister-Killian and Fryns syndromes. (Letter) Am. J.
Med. Genet. 111: 86-87, 2002. Willems, P. J., Keersmaekers, G. H. A., Dom, K. E.,
Colpaert, C., Schatteman, E., Vergote, I. B. P., Dumon, J. E. Fryns syndrome
without diaphragmatic hernia? Am. J. Med. Genet. 41: 255-257, 1991.