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[Fryns syndrome: report of the first case in the national literature].
Bol Med Hosp Infant Mex. 1993 Sep; 50(9):666-70.BM

Abstract

The Fryns' syndrome is characterized by multiple congenital deformities such as cranio-facial anomalies, diaphragmatic hernia, pulmonary hypoplasia, distal anomalies of the extremities and diverse cardiovascular, digestive, urogenital and central nervous system malformations. Heredity trait is recessive-autosomic with variable expression. Mortality is the rule. Diagnosis must be suggested by early polyhydramnios, premature delivery, familial tendency and perinatal mortality. In the present paper, a case with the most significant features and with other features not previously described is reported.

Authors+Show Affiliations

Rentería-Ibarra M
Servicio de Genética, Hospital Central Militar, México, D.F., México.
Frías-Márquez SG
No affiliation info available
Michel-Aceves RJ
No affiliation info available
Navarrete-Arellano M
No affiliation info available

MeSH

Abnormalities, MultipleBone and BonesFacial BonesFemaleHernia, DiaphragmaticHernias, Diaphragmatic, CongenitalHumansInfant, NewbornLungMexicoPedigreeSkullSyndrome

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

spa

PubMed ID

8373549

Citation

Rentería-Ibarra, M, et al. "[Fryns Syndrome: Report of the First Case in the National Literature]." Boletin Medico Del Hospital Infantil De Mexico, vol. 50, no. 9, 1993, pp. 666-70.
Rentería-Ibarra M, Frías-Márquez SG, Michel-Aceves RJ, et al. [Fryns syndrome: report of the first case in the national literature]. Bol Med Hosp Infant Mex. 1993;50(9):666-70.
Rentería-Ibarra, M., Frías-Márquez, S. G., Michel-Aceves, R. J., & Navarrete-Arellano, M. (1993). [Fryns syndrome: report of the first case in the national literature]. Boletin Medico Del Hospital Infantil De Mexico, 50(9), 666-70.
Rentería-Ibarra M, et al. [Fryns Syndrome: Report of the First Case in the National Literature]. Bol Med Hosp Infant Mex. 1993;50(9):666-70. PubMed PMID: 8373549.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Fryns syndrome: report of the first case in the national literature]. AU - Rentería-Ibarra,M, AU - Frías-Márquez,S G, AU - Michel-Aceves,R J, AU - Navarrete-Arellano,M, PY - 1993/9/1/pubmed PY - 1993/9/1/medline PY - 1993/9/1/entrez SP - 666 EP - 70 JF - Boletin medico del Hospital Infantil de Mexico JO - Bol Med Hosp Infant Mex VL - 50 IS - 9 N2 - The Fryns' syndrome is characterized by multiple congenital deformities such as cranio-facial anomalies, diaphragmatic hernia, pulmonary hypoplasia, distal anomalies of the extremities and diverse cardiovascular, digestive, urogenital and central nervous system malformations. Heredity trait is recessive-autosomic with variable expression. Mortality is the rule. Diagnosis must be suggested by early polyhydramnios, premature delivery, familial tendency and perinatal mortality. In the present paper, a case with the most significant features and with other features not previously described is reported. SN - 0539-6115 UR - https://www.unboundmedicine.com/medline/citation/8373549/[Fryns_syndrome:_report_of_the_first_case_in_the_national_literature]_ L2 - http://www.diseaseinfosearch.org/result/2955 DB - PRIME DP - Unbound Medicine ER -