A case of Fryns syndrome.
A case of Fryns syndrome is presented. Characteristic features of this lethal autosomal recessive disorder include corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D013577:Syndrome