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Fryns syndrome survivors and neurologic outcome.
Am J Med Genet. 1995 Nov 20; 59(3):334-40.AJ

Abstract

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental delay. The spectrum of individual outcome and of associated anomalies indicates that individual evaluation, including imaging for structural brain malformation, is strongly advised.

Authors+Show Affiliations

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

8599357

Citation

Van Hove, J L., et al. "Fryns Syndrome Survivors and Neurologic Outcome." American Journal of Medical Genetics, vol. 59, no. 3, 1995, pp. 334-40.
Van Hove JL, Spiridigliozzi GA, Heinz R, et al. Fryns syndrome survivors and neurologic outcome. Am J Med Genet. 1995;59(3):334-40.
Van Hove, J. L., Spiridigliozzi, G. A., Heinz, R., McConkie-Rosell, A., Iafolla, A. K., & Kahler, S. G. (1995). Fryns syndrome survivors and neurologic outcome. American Journal of Medical Genetics, 59(3), 334-40.
Van Hove JL, et al. Fryns Syndrome Survivors and Neurologic Outcome. Am J Med Genet. 1995 Nov 20;59(3):334-40. PubMed PMID: 8599357.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome survivors and neurologic outcome. AU - Van Hove,J L, AU - Spiridigliozzi,G A, AU - Heinz,R, AU - McConkie-Rosell,A, AU - Iafolla,A K, AU - Kahler,S G, PY - 1995/11/20/pubmed PY - 1995/11/20/medline PY - 1995/11/20/entrez SP - 334 EP - 40 JF - American journal of medical genetics JO - Am J Med Genet VL - 59 IS - 3 N2 - Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental delay. The spectrum of individual outcome and of associated anomalies indicates that individual evaluation, including imaging for structural brain malformation, is strongly advised. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8599357/Fryns_syndrome_survivors_and_neurologic_outcome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1995&volume=59&issue=3&spage=334 DB - PRIME DP - Unbound Medicine ER -