Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature

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 diagnosti...

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Published inGenetic counseling Vol. 16; no. 4; p. 363
Main Authors Alessandri, L, Brayer, C, Attali, T, Samperiz, S, Tiran-Rajaofera, I, Ramful, D, Pilorget, H
Format Journal Article
LanguageEnglish
Published Switzerland 2005
Subjects
Abnormalities, Multiple - genetics
Facial Bones - abnormalities
Fatal Outcome
Fetal Growth Retardation
Finger Phalanges - abnormalities
Finger Phalanges - diagnostic imaging
Genes, Recessive - genetics
Gestational Age
Heart Septal Defects, Ventricular - genetics
Hernia, Diaphragmatic - genetics
Humans
Infant, Newborn
Male
Radiography
Syndrome
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Summary: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.
ISSN:1015-8146