Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.
Cardio-facio-cutaneous syndrome (CFC) is an uncommon autosomal recessive condition recently distinguished from Noonan syndrome but with more marked growth failure and ectodermal dysplasia. Abdominal symptoms are frequently described but anatomic lesions in CFC have rarely been described. We have found significant anatomic abnormalities in CFC patients including antral foveolar hyperplasia, severe constipation with fecal impaction, nephrocalcinosis and renal cysts.
Herman
Thomas E
TE
St. Louis Children's Hospital, Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S. Kingshighway Blvd., St. Louis, MO 63110, USA. herman@mir.wustl.edu
McAlister
William H
WH
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002118:Calcium / Q000652:urine; D003560:Cysts / Q000151:congenital / Q000175:diagnosis*; D004476:Ectodermal Dysplasia / Q000175:diagnosis; D005147:Facial Bones / Q000002:abnormalities; D005244:Fecal Impaction / Q000175:diagnosis; D005260:Female; D041981:Gastrointestinal Tract / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007674:Kidney Diseases / Q000151:congenital / Q000175:diagnosis*; D008297:Male; D013577:Syndrome; D001743:Urinary Bladder / Q000002:abnormalities*; D014545:Urinary Calculi / Q000175:diagnosis
D002118:Calcium