Abstract
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.
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Adolescent
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Calcium / urine
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Cysts / congenital
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Cysts / diagnosis*
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Ectodermal Dysplasia / diagnosis
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Facial Bones / abnormalities
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Fecal Impaction / diagnosis
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Female
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Gastrointestinal Tract / abnormalities*
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Heart Defects, Congenital / diagnosis
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Humans
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Intellectual Disability / diagnosis
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Kidney Diseases / congenital
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Kidney Diseases / diagnosis*
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Male
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Syndrome
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Urinary Bladder / abnormalities*
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Urinary Calculi / diagnosis