论文信息 - A case of Fryns syndrome.

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.

R. Winter | I. Young | K. Simpson

[1] J. Berden,et al. Biochemical Studies in the Liver and Muscle of Patients with Zellweger Syndrome , 1983, Pediatric Research.

[2] M. Lubinsky,et al. Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome. , 1983, American journal of medical genetics.