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Pallister-Killian and Fryns syndromes: nosology.
Am J Med Genet. 1993 Aug 15; 47(2):241-5.AJ

Abstract

Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, cleft palate, diaphragmatic hernia, and distal digital hypoplasia. The appearance of the face and digits is very similar to that observed in Pallister-Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition. We report on an infant with many manifestations of Fryns syndrome ("coarse" face, cleft palate, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p). Her diagnosis was changed to Pallister-Killian syndrome and the family was counselled accordingly. The clinical overlap between Fryns and Pallister-Killian syndromes is discussed. Because the chromosome abnormality in Pallister-Killian syndrome is often limited to fibroblasts and may be selectively eliminated both in vivo and in vitro, some Pallister-Killian patients may be misdiagnosed with Fryns syndrome and given an erroneously high recurrence risk. Newborn infants with the Fryns or Pallister-Killian phenotypes should have chromosome studies involving multiple tissues so that the correct diagnosis can be made. This will contribute to the understanding of both disorders and facilitate appropriate genetic counselling.

Authors+Show Affiliations

Department of Genetics, Magee Womens Hospital, Pittsburgh, PA.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8213912

Citation

McPherson, E W., et al. "Pallister-Killian and Fryns Syndromes: Nosology." American Journal of Medical Genetics, vol. 47, no. 2, 1993, pp. 241-5.
McPherson EW, Ketterer DM, Salsburey DJ. Pallister-Killian and Fryns syndromes: nosology. Am J Med Genet. 1993;47(2):241-5.
McPherson, E. W., Ketterer, D. M., & Salsburey, D. J. (1993). Pallister-Killian and Fryns syndromes: nosology. American Journal of Medical Genetics, 47(2), 241-5.
McPherson EW, Ketterer DM, Salsburey DJ. Pallister-Killian and Fryns Syndromes: Nosology. Am J Med Genet. 1993 Aug 15;47(2):241-5. PubMed PMID: 8213912.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Pallister-Killian and Fryns syndromes: nosology. AU - McPherson,E W, AU - Ketterer,D M, AU - Salsburey,D J, PY - 1993/8/15/pubmed PY - 1993/8/15/medline PY - 1993/8/15/entrez SP - 241 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 47 IS - 2 N2 - Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, cleft palate, diaphragmatic hernia, and distal digital hypoplasia. The appearance of the face and digits is very similar to that observed in Pallister-Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition. We report on an infant with many manifestations of Fryns syndrome ("coarse" face, cleft palate, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p). Her diagnosis was changed to Pallister-Killian syndrome and the family was counselled accordingly. The clinical overlap between Fryns and Pallister-Killian syndromes is discussed. Because the chromosome abnormality in Pallister-Killian syndrome is often limited to fibroblasts and may be selectively eliminated both in vivo and in vitro, some Pallister-Killian patients may be misdiagnosed with Fryns syndrome and given an erroneously high recurrence risk. Newborn infants with the Fryns or Pallister-Killian phenotypes should have chromosome studies involving multiple tissues so that the correct diagnosis can be made. This will contribute to the understanding of both disorders and facilitate appropriate genetic counselling. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8213912/Pallister_Killian_and_Fryns_syndromes:_nosology_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=47&issue=2&spage=241 DB - PRIME DP - Unbound Medicine ER -