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Agenesis of the corpus callosum, camptodactyly and obesity.

Abstract
We report a 16-year-old girl with agenesis of the corpus callosum, congenital heart disease (ventricular septal defect and abnormal venous return), 5th digit camptodactyly and obesity, born to first cousin Italian parents. Although this child shares features with acrocallosal syndrome and Camera-Marugo-Cohen syndrome, we think that this combination of anomalies allows the delineation of a new MCA/MR syndrome, possibly recessively inherited.
AuthorsA Verloes, S Lesenfants
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 9 Issue 2 Pg. 107-9 (Apr 2000) ISSN: 0962-8827 [Print] England
PMID10826621 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (pathology)
  • Adolescent
  • Agenesis of Corpus Callosum
  • Female
  • Hand Deformities, Congenital (pathology)
  • Heart Septal Defects, Ventricular (pathology)
  • Humans
  • Obesity (pathology)

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