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Pediatric Pathology Volume 14, 1994 - Issue 3
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Original Article

Fryns Syndrome: A New Definition

H. Pinar Program in Developmental Pathology, Department of Pathology and Laboratory Medicine, Women and Infants' Hospital of Rhode Island and Brown University School of Medicine, Providence, Rhode Island, USA
,
M. W. Carpenter Department of Obstetrics and Gynecology, Women and Infants' Hospital of Rhode Island and Brown University School of Medicine, Providence, Rhode Island, USA
,
D. Abuelo Department of Pediatrics, Rhode Island Hospital and Brown University School of Medicine, Providence, Rhode Island, USA
&
D. B. Singer Program in Developmental Pathology, Department of Pathology and Laboratory Medicine, Women and Infants' Hospital of Rhode Island and Brown University School of Medicine, Providence, Rhode Island, USA
Pages 467-478 | Received 03 Aug 1993, Accepted 11 Oct 1993, Published online: 09 Jul 2009

References

  • Fitch N., Srolovitz H., Robitaille Y., Guttman F. Absent left hemidiaphragm, arhinencephaly, and cardiac malformations. J Med Genet. 1978; 15: 399–401
  • Fryns J. P., Moerman F., Goddeeris P., Bossuyt C., Van den Berghe H. A new lethal syndrome with cloudy cornea diaphragmatic defects and distal limb deformities. Hum Genet. 1979; 50: 65–70
  • Goddeeris P., Fryns J. P., Van den Berghe H. Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities: a new lethal syndrome. J Genet Hum. 1980; 28: 57–60
  • Lubinsky M., Severn C., Rapoport J. M. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1983; 14: 461–6
  • Meinecke P., Fryns J. P. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digit hypoplasia. Clin Genet. 1985; 28: 516–20
  • Young I. D., Simpson K., Winter R. M. A case of Fryns syndrome. J Med Genet. 1986; 23: 82–4
  • Samueloff A., Navot D., Birkenfeld A., Schenker J. G. Fryns syndrome, a predictable, lethal pattern of multiple congenital anomalies. Am J Obstet Gynecol. 1987; 156: 86–8
  • Schwyzer U., Briner J., Schnizel A. Case report: Fryns syndrome in a girl born to consanguineous parents. Acta Paediatr Scand. 1987; 76: 167–71
  • Moerman P., Fryns J. P., Vandenberghe K., Devlieger H., Lauweryns M. The syndrome of diaphragmatic hernia abnormal facies and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988; 31: 805–14
  • Aymé S., Julian C., Gamberelli D., et al. Fryns syndrome: report on 8 new cases. Clin Genet. 1989; 35: 191–201
  • Bamfort J. S., Leonard C. O., Chodirker B. N., et al. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. Am J Med Genet. 1989; 32: 93–9
  • Clark R. D., Fenner-Gonzales M. Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. Am J Med Genet. 1989; 34: 422–6
  • De Jong G., Rossouw R. A., Retief A. E. Ring chromosome 15 in a patient with features of Fryns syndrome. J Med Genet. 1989; 26: 469–72
  • 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 hypoplasia. Pediatrics 1990; 85: 499–504
  • Kershisnik M. M., Craven C. M., Jung A. L., Carey J. C., Knisely A. S. Osteochondrodysplasia in Fryns syndrome. Am J Dis Child. 1991; 145: 656–60
  • Willems P. J., Keersmaekers G. HA, Dom K. E., et al. Fryns syndrome without diaphragmatic hernia?. Am J Med Genet. 1991; 41: 255–7
  • Pellissier M. C., Philip N., Potier N. Prenatal diagnosis of Fryns syndrome. Prenat Diagn. 1992; 12: 299–303
  • Bulas D. I., Saal H. M., Allen J. F., Kapur S., Nies B. M., Newman K. Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns syndrome. Prenat Diagn. 1992; 12: 867–75
  • Fryns J. P. Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia. J Med Genet. 1987; 24: 217–4
  • Fryns J. P. Fryns syndrome. Birth Defects Encyclopedia, M. L. Buyse. Center for Birth Defects Information Services, Dover, MA 1990; 752–3

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