Fryns syndrome

Fryns syndrome
Classification and external resources
GeneReviews

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period.[1] Fryns (1987) reviewed the syndrome.[2]

Clinical Features

Usually associated with diaphragmatic hernia, pulmonary hypoplasia, imperforate anus, micropenis, bilateral cryptorchidism, cerebral ventricular dilation, camptodactyly, agenesis of sacrum, low-set ear.

Diagnosis

Prenatal Diagnosis:

Differential Diagnosis:

Cytogenetics

In a newborn boy thought to have Fryns syndrome, Clark and Fenner-Gonzales (1989) found mosaicism for a tandem duplication of 1q24-q31.2.[33] They suggested that the gene for this disorder is located in that region. However, de Jong et al. (1989), Krassikoff and Sekhon (1990), and Dean et al. (1991) found possible Fryns syndrome associated with anomalies of chromosome 15, chromosome 6, chromosome 8(human)and chromosome 22, respectively.[34][35][36] Thus, these cases may all represent mimics of the mendelian syndrome and have no significance as to the location of the gene for the recessive disorder.

By array CGH, Slavotinek et al. (2005) screened patients with DIH and additional phenotypic anomalies consistent with Fryns syndrome for cryptic chromosomal aberrations.[27] They identified submicroscopic chromosome deletions in 3 probands who had previously been diagnosed with Fryns syndrome and had normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving 15q26.2 (see 142340), and 1 male infant had a deletion in band 8p23.1 (see 222400).

Epidemiology

In France, Aymé, et al. (1989) estimated the prevalence of Fryns syndrome to be 0.7 per 10,000 births based on the diagnosis of 6 cases in a series of 112,276 consecutive births (live births and perinatal deaths).[20]

References

  1. 1 2 Alessandri L, Brayer C, Attali T, et al. (2005). "Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature". Genet. Couns. 16 (4): 363–70. PMID 16440878.
  2. Fryns JP (May 1987). "Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia". J. Med. Genet. 24 (5): 271–4. doi:10.1136/jmg.24.5.271. PMC 1050049. PMID 3585941.
  3. Fryns JP, Moerman F, Goddeeris P, Bossuyt C, Van den Berghe H (1979). "A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities". Hum. Genet. 50 (1): 65–70. doi:10.1007/BF00295591. PMID 381161.
  4. Goddeeris P, Fryns JP, van den Berghe H (March 1980). "Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. — a new lethal syndrome". J Genet Hum 28 (1): 57–60. PMID 7400786.
  5. Fitch N (February 1988). "Fryns syndrome". J. Med. Genet. 25 (2): 135. doi:10.1136/jmg.25.2.135. PMC 1015459. PMID 3346889.
  6. Fitch N, Srolovitz H, Robitaille Y, Guttman F (October 1978). "Absent left hemidiaphragm, arhinencephaly, and cardiac malformations". J. Med. Genet. 15 (5): 399–401. doi:10.1136/jmg.15.5.399. PMC 1013741. PMID 739533.
  7. Lubinsky M, Severn C, Rapoport JM (March 1983). "Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome". Am. J. Med. Genet. 14 (3): 461–6. doi:10.1002/ajmg.1320140309. PMID 6859098.
  8. Meinecke P, Fryns JP (December 1985). "The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance". Clin. Genet. 28 (6): 516–20. doi:10.1111/j.1399-0004.1985.tb00419.x. PMID 4075561.
  9. Young ID, Simpson K, Winter RM (February 1986). "A case of Fryns syndrome". J. Med. Genet. 23 (1): 82–4. doi:10.1136/jmg.23.1.82. PMC 1049547. PMID 3950939.
  10. Samueloff A, Navot D, Birkenfeld A, Schenker JG (January 1987). "Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies". Am. J. Obstet. Gynecol. 156 (1): 86–8. doi:10.1016/0002-9378(87)90210-9. PMID 3799773.
  11. Schwyzer U, Briner J, Schinzel A (January 1987). "Fryns syndrome in a girl born to consanguineous parents". Acta Paediatr Scand 76 (1): 167–71. doi:10.1111/j.1651-2227.1987.tb10441.x. PMID 3564997.
  12. Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM (December 1988). "The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome". Am. J. Med. Genet. 31 (4): 805–14. doi:10.1002/ajmg.1320310413. PMID 3239572.
  13. Cunniff C, Jones KL, Saal HM, Stern HJ (April 1990). "Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia". Pediatrics 85 (4): 499–504. PMID 2314962.
  14. Kershisnik MM, Craven CM, Jung AL, Carey JC, Knisely AS (June 1991). "Osteochondrodysplasia in Fryns syndrome". Am. J. Dis. Child. 145 (6): 656–60. doi:10.1001/archpedi.1991.02160060074024. PMID 1903587.
  15. Willems PJ, Keersmaekers GH, Dom KE, et al. (November 1991). "Fryns syndrome without diaphragmatic hernia?". Am. J. Med. Genet. 41 (2): 255–7. doi:10.1002/ajmg.1320410225. PMID 1785645.
  16. Bartsch O, Meinecke P, Kamin G (October 1995). "Fryns syndrome: two further cases without lateral diaphragmatic defects". Clin. Dysmorphol. 4 (4): 352–8. doi:10.1097/00019605-199510000-00012. PMID 8574427.
  17. Bamforth JS, Leonard CO, Chodirker BN, et al. (January 1989). "Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome". Am. J. Med. Genet. 32 (1): 93–9. doi:10.1002/ajmg.1320320120. PMID 2650550.
  18. 1 2 Hanssen AM, Schrander-Stumpel CT, Thiry PA, Fryns JP (1992). "Fryns syndrome: another example of non-lethal outcome with severe mental handicap". Genet. Couns. 3 (4): 187–93. PMID 1472353.
  19. Vargas JE, Cox GF, Korf BR (September 2000). "Discordant phenotype in monozygotic twins with Fryns syndrome". Am. J. Med. Genet. 94 (1): 42–5. doi:10.1002/1096-8628(20000904)94:1<42::AID-AJMG9>3.0.CO;2-6. PMID 10982481.
  20. 1 2 3 Aymé S, Julian C, Gambarelli D, et al. (March 1989). "Fryns syndrome: report on 8 new cases". Clin. Genet. 35 (3): 191–201. doi:10.1111/j.1399-0004.1989.tb02927.x. PMID 2650934.
  21. Riela AR, Thomas IT, Gonzalez AR, Ifft RD (March 1995). "Fryns syndrome: neurologic findings in a survivor". J. Child Neurol. 10 (2): 110–3. doi:10.1177/088307389501000208. PMID 7782599.
  22. Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG (November 1995). "Fryns syndrome survivors and neurologic outcome". Am. J. Med. Genet. 59 (3): 334–40. doi:10.1002/ajmg.1320590311. PMID 8599357.
  23. Fryns JP, Moerman P (1998). "Scalp defects in Fryns syndrome". Genet. Couns. 9 (2): 153–4. PMID 9664213.
  24. Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H (December 2000). "Variability in the phenotypic expression of fryns syndrome: A report of two sibships". Am. J. Med. Genet. 95 (5): 415–24. doi:10.1002/1096-8628(20001218)95:5<415::AID-AJMG2>3.0.CO;2-J. PMID 11146459.
  25. Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E (January 2003). "Documentation of anomalies not previously described in Fryns syndrome". Am. J. Med. Genet. A 116A (2): 179–82; discussion 183. doi:10.1002/ajmg.a.10763. PMID 12494439.
  26. Pierson DM, Taboada E, Butler MG (March 2004). "Eye abnormalities in Fryns syndrome". Am. J. Med. Genet. A 125A (3): 273–7. doi:10.1002/ajmg.a.20520. PMID 14994236.
  27. 1 2 Slavotinek A, Lee SS, Davis R, et al. (September 2005). "Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1". J. Med. Genet. 42 (9): 730–6. doi:10.1136/jmg.2004.028787. PMC 1736126. PMID 16141010.
  28. Manouvrier-Hanu S, Devisme L, Vaast P, Boute-Benejean O, Farriaux JP (1996). "Fryns syndrome and erupted teeth in a 24-weeks-old fetus". Genet. Couns. 7 (2): 131–4. PMID 8831132.
  29. McPherson EW, Ketterer DM, Salsburey DJ (August 1993). "Pallister–Killian and Fryns syndromes: nosology". Am. J. Med. Genet. 47 (2): 241–5. doi:10.1002/ajmg.1320470219. PMID 8213912.
  30. 1 2 Veldman A, Schlösser R, Allendorf A, et al. (July 2002). "Bilateral congenital diaphragmatic hernia: Differentiation between Pallister–Killian and Fryns syndromes". Am. J. Med. Genet. 111 (1): 86–7. doi:10.1002/ajmg.10438. PMID 12124742.
  31. Rodríguez JI, Garcia I, Alvarez J, Delicado A, Palacios J (November 1994). "Lethal Pallister–Killian syndrome: phenotypic similarity with Fryns syndrome". Am. J. Med. Genet. 53 (2): 176–81. doi:10.1002/ajmg.1320530211. PMID 7856644.
  32. 1 2 Slavotinek AM (February 2004). "Fryns syndrome: a review of the phenotype and diagnostic guidelines". Am. J. Med. Genet. A 124A (4): 427–33. doi:10.1002/ajmg.a.20381. PMID 14735597.
  33. Clark RD, Fenner-Gonzales M (November 1989). "Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2". Am. J. Med. Genet. 34 (3): 422–6. doi:10.1002/ajmg.1320340319. PMID 2596530.
  34. de Jong G, Rossouw RA, Retief AE (July 1989). "Ring chromosome 15 in a patient with features of Fryns' syndrome". J. Med. Genet. 26 (7): 469–70. doi:10.1136/jmg.26.7.469. PMC 1015654. PMID 2746621.
  35. Krassikoff N, Sekhon GS (July 1990). "Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?". Am. J. Med. Genet. 36 (3): 363–4. doi:10.1002/ajmg.1320360327. PMID 2363440.
  36. Dean JC, Couzin DA, Gray ES, Lloyd DJ, Stephen GS (November 1991). "Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field". Clin. Genet. 40 (5): 349–52. doi:10.1111/j.1399-0004.1991.tb03108.x. PMID 1756610.
This article is issued from Wikipedia - version of the Saturday, April 02, 2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.