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[Fryns syndrome: report of the first case in the national literature].

作者信息

Rentería-Ibarra M, Frías-Márquez S G, Michel-Aceves R J, Navarrete-Arellano M

机构信息

Servicio de Genética, Hospital Central Militar, México, D.F., México.

出版信息

Bol Med Hosp Infant Mex. 1993 Sep;50(9):666-70.

PMID:8373549
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.

摘要

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