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Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature.
Genet Couns. 2005; 16(4):363-70.GC

Abstract

Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome.

Authors+Show Affiliations

Service de Réanimation Néonatale et Pédiatrique, Centre Hospitalier Départemental Félix Guyon, Saint-Denis, La Réunion, France. alessandri@chd-fguyon.frNo affiliation info availableNo 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

16440878

Citation

Alessandri, L, et al. "Fryns Syndrome Without Diaphragmatic Hernia. Report On a New Case and Review of the Literature." Genetic Counseling (Geneva, Switzerland), vol. 16, no. 4, 2005, pp. 363-70.
Alessandri L, Brayer C, Attali T, et al. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genet Couns. 2005;16(4):363-70.
Alessandri, L., Brayer, C., Attali, T., Samperiz, S., Tiran-Rajaofera, I., Ramful, D., & Pilorget, H. (2005). Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genetic Counseling (Geneva, Switzerland), 16(4), 363-70.
Alessandri L, et al. Fryns Syndrome Without Diaphragmatic Hernia. Report On a New Case and Review of the Literature. Genet Couns. 2005;16(4):363-70. PubMed PMID: 16440878.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. AU - Alessandri,L, AU - Brayer,C, AU - Attali,T, AU - Samperiz,S, AU - Tiran-Rajaofera,I, AU - Ramful,D, AU - Pilorget,H, PY - 2006/1/31/pubmed PY - 2006/4/6/medline PY - 2006/1/31/entrez SP - 363 EP - 70 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 16 IS - 4 N2 - Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by coarse facies, diaphragmatic hernia, distal limb hypoplasia and malformations of the cardiovascular, gastrointestinal, genitourinary and central nervous systems. Diaphragmatic hernia is a leading diagnostic feature in Fryns syndrome, recorded in more than 80% of cases. We report a newborn with clinical features of Fryns syndrome except the diaphragmatic hernia. Cases of Fryns syndrome without diaphragmatic hernia are reviewed. Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. Fetal mice, exposed to nitrofen, have a high incidence of congenital diaphragmatic hernia and other malformations similar to that seen in Fryns syndrome. Nitrofen might target molecular mechanisms similar to those involved in Fryns syndrome. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16440878/Fryns_syndrome_without_diaphragmatic_hernia__Report_on_a_new_case_and_review_of_the_literature_ L2 - https://www.diseaseinfosearch.org/result/2955 DB - PRIME DP - Unbound Medicine ER -