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Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement.
Am J Med Genet A. 2005 Jan 15; 132A(2):226-30.AJ

Abstract

Fryns syndrome is an autosomal recessive multiple congenital anomaly/mental retardation syndrome characterized by coarse face, distal limb hypoplasia, and diaphragmatic anomalies. We describe a newborn girl with Fryns syndrome and Hirschsprung disease, an association that has been reported in five previous cases. These patients support the hypothesis that the neural crest plays a role in the pathogenesis of Fryns syndrome. Clinically asymptomatic or subtle anomalies that are in the spectrum of neural crest maldevelopment should be sought in all patients with Fryns syndrome including stillbirths, neonatal deaths, as well as long-term survivors. We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes.

Authors+Show Affiliations

Division of Genetics and Metabolism, Children's Hospital, Harvard Medical School, Boston, MA 02130, USA. Fowzan.Alkuraya@childrens.harvard.eduNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

15580636

Citation

Alkuraya, Fowzan S., et al. "Fryns Syndrome With Hirschsprung Disease: Support for Possible Neural Crest Involvement." American Journal of Medical Genetics. Part A, vol. 132A, no. 2, 2005, pp. 226-30.
Alkuraya FS, Lin AE, Irons MB, et al. Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Med Genet A. 2005;132A(2):226-30.
Alkuraya, F. S., Lin, A. E., Irons, M. B., & Kimonis, V. E. (2005). Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. American Journal of Medical Genetics. Part A, 132A(2), 226-30.
Alkuraya FS, et al. Fryns Syndrome With Hirschsprung Disease: Support for Possible Neural Crest Involvement. Am J Med Genet A. 2005 Jan 15;132A(2):226-30. PubMed PMID: 15580636.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. AU - Alkuraya,Fowzan S, AU - Lin,Angela E, AU - Irons,Mira B, AU - Kimonis,Virginia E, PY - 2004/12/8/pubmed PY - 2005/4/19/medline PY - 2004/12/8/entrez SP - 226 EP - 30 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 132A IS - 2 N2 - Fryns syndrome is an autosomal recessive multiple congenital anomaly/mental retardation syndrome characterized by coarse face, distal limb hypoplasia, and diaphragmatic anomalies. We describe a newborn girl with Fryns syndrome and Hirschsprung disease, an association that has been reported in five previous cases. These patients support the hypothesis that the neural crest plays a role in the pathogenesis of Fryns syndrome. Clinically asymptomatic or subtle anomalies that are in the spectrum of neural crest maldevelopment should be sought in all patients with Fryns syndrome including stillbirths, neonatal deaths, as well as long-term survivors. We suspect that the clinical observation about Hirschsprung disease and Fryns syndrome may provide insight into its molecular mechanisms and candidate genes. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15580636/Fryns_syndrome_with_Hirschsprung_disease:_support_for_possible_neural_crest_involvement_ L2 - https://doi.org/10.1002/ajmg.a.30423 DB - PRIME DP - Unbound Medicine ER -