[Fryns syndrome: report of the first case in the national literature].
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.
Servicio de Genética, Hospital Central Militar, México, D.F., México.
M
M
Rentería-Ibarra
S G
SG
Frías-Márquez
R J
RJ
Michel-Aceves
M
M
Navarrete-Arellano
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D006548:Hernia, Diaphragmatic / Q000235:genetics; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008800:Mexico; D010375:Pedigree; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome