A variant of the cerebro-oculo-facio-skeletal syndrome with congenital ectropion and a case of lamellar ichthyosis in the same family.
Stratakis
C A
CA
Runkle
B
B
Rennert
O M
OM
D000015:Abnormalities, Multiple; D001921:Brain / Q000002:abnormalities*; D002648:Child; D004483:Ectropion / Q000151:congenital*; D005183:Failure to Thrive; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017490:Ichthyosis, Lamellar; D007231:Infant, Newborn; D008607:Intellectual Disability; D013577:Syndrome