Literature DB >> 15490149

Gastrointestinal and renal abnormalities in cardio-facio-cutaneous syndrome.

Thomas E Herman1, William H McAlister.   

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.

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Year:  2004        PMID： 15490149     DOI： 10.1007/s00247-004-1306-5

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  7 in total

1.  Marked gastric foveolar hyperplasia associated with active cytomegalovirus infection.

Authors:  S Y Xiao; J Hart
Journal:  Am J Gastroenterol       Date:  2001-01       Impact factor: 10.864

2.  Cardio-facio-cutaneous (CFC) syndrome: neurological features in two children.

Authors:  G Raymond; L B Holmes
Journal:  Dev Med Child Neurol       Date:  1993-08       Impact factor: 5.449

3.  Cardiofaciocutaneous syndrome with new ectodermal manifestations.

Authors:  P D Turnpenny; J C Dean; I A Auchterlonie; A W Johnston
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

4.  Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.

Authors:  T A Grebe; C Clericuzio
Journal:  Am J Med Genet       Date:  2000-11-13

5.  Gastric thumbprinting: diffuse gastric wall mucosal and submucosal thickening in infants with ductal-dependent cyanotic congenital heart disease maintained on long-term prostaglandin therapy.

Authors:  Aparna Joshi; Walter E Berdon; Adele Brudnicki; Gary LeQuesne; Carrie Ruzal-Shapiro; Constance Hayes
Journal:  Pediatr Radiol       Date:  2002-03-23

6.  New multiple congenital anomalies/mental retardation syndrome with cardio-facio-cutaneous involvement--the CFC syndrome.

Authors:  J F Reynolds; G Neri; J P Herrmann; B Blumberg; J G Coldwell; P V Miles; J M Opitz
Journal:  Am J Med Genet       Date:  1986-11

7.  Absence of 12q21.2q22 deletions and subtelomeric rearrangements in cardiofaciocutaneous (CFC) syndrome patients.

Authors:  M I Kavamura; M Zollino; R Lecce; M Murdolo; D Brunoni; M M A Alchorne; J M Opitz; G Neri
Journal:  Am J Med Genet A       Date:  2003-06-01       Impact factor: 2.802
  7 in total
  3 in total

Review 1.  Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

Authors:  Mary Ella M Pierpont; Pilar L Magoulas; Saleh Adi; Maria Ines Kavamura; Giovanni Neri; Jacqueline Noonan; Elizabeth I Pierpont; Kent Reinker; Amy E Roberts; Suma Shankar; Joseph Sullivan; Melinda Wolford; Brenda Conger; Molly Santa Cruz; Katherine A Rauen
Journal:  Pediatrics       Date:  2014-09-01       Impact factor: 7.124

Review 2.  The cardiofaciocutaneous syndrome.

Authors:  A Roberts; J Allanson; S K Jadico; M I Kavamura; J Noonan; J M Opitz; T Young; G Neri
Journal:  J Med Genet       Date:  2006-07-06       Impact factor: 6.318

3.  Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.

Authors:  Claudia C Y Chung; Gordon K C Leung; Christopher C Y Mak; Jasmine L F Fung; Mianne Lee; Steven L C Pei; Mullin H C Yu; Vivian C C Hui; Joshua C K Chan; Jeffrey F T Chau; Marcus C Y Chan; Mandy H Y Tsang; Wilfred H S Wong; Joanna Y L Tung; Kin Shing Lun; Yiu Ki Ng; Cheuk Wing Fung; Mabel S C Wong; Rosanna M S Wong; Yu Lung Lau; Godfrey C F Chan; So Lun Lee; Kit San Yeung; Brian H Y Chung
Journal:  Lancet Reg Health West Pac       Date:  2020-07-24
  3 in total

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