Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome.
Cardio-facio-cutaneous syndrome is characterized by complex congenital heart disease, characteristic facies, ectodermal abnormalities, growth failure, and mental retardation. It has been described as a distinctive entity from Noonan syndrome. This paper presents a child with cardio-facio-cutaneous syndrome born to a mother with Noonan syndrome. This is suggestive of cardio-facio-cutaneous syndrome being a variable expression of Noonan syndrome.
Leichtman
L G
LG
Department of Pediatrics, Eastern Virginia Medical School, Norfolk 23507-1971, USA.
D000328:Adult; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D009634:Noonan Syndrome / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome