A case of Fryns syndrome.
Open Access
- 1 February 1986
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 23 (1) , 82-84
- https://doi.org/10.1136/jmg.23.1.82
Abstract
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.Keywords
This publication has 5 references indexed in Scilit:
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- Fryns syndrome: A new variable multiple congenital anomaly (MCA) syndromeAmerican Journal of Medical Genetics, 1983
- Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.1980
- A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformitiesHuman Genetics, 1979
- Cerebro-hepato-renal syndrome of Zellweger: A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolismThe Journal of Pediatrics, 1975