Fryns syndrome: a predictable, lethal pattern of multiple congenital anomalies.
Fryns syndrome is a unique pattern of lethal multiple congenital malformations with variable expression. A family in which all four sibs conformed to Fryns syndrome is detailed and substantiates the criteria for definition of the syndrome; perinatal mortality, hypoplastic lungs, and facial deformities should be highly suggestive of the syndrome. The addition of a strong family history, diaphragmatic hernias, distal limb deformities, and early onset of polyhydramnios with subsequent premature delivery should definitely confirm the diagnosis.
D000015:Abnormalities, Multiple / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D005804:Genes, Lethal; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities; D013577:Syndrome