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

Bol Med Hosp Infant Mex. 1993 Sep;50(9):666-70.
[Article in Spanish]

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.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone and Bones / abnormalities
  • Facial Bones / abnormalities*
  • Female
  • Hernia, Diaphragmatic / genetics
  • Hernias, Diaphragmatic, Congenital*
  • Humans
  • Infant, Newborn
  • Lung / abnormalities*
  • Mexico
  • Pedigree
  • Skull / abnormalities*
  • Syndrome