Publication | Open Access
A case of Fryns syndrome.
34
Citations
5
References
1986
Year
Fryns SyndromeThumb HypoplasiaVasculitisOphthalmologyNeurological DisorderMedicineGenetic DisorderCharacteristic FeaturesPathologyNeurologyNeuropathologyNeuromuscular PathologyCorneal CloudingConnective Tissue Disease
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.
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