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  • Title: Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?
    Author: Mégarbané A, Haddad J.
    Journal: Clin Dysmorphol; 1999 Oct; 8(4):305-7. PubMed ID: 10532184.
    Abstract:
    We report two children of nonconsanguineous parents, with hypotonia, severe psychomotor retardation, short stature, a prominent forehead, ptosis, a wide flat nasal bridge, broad nasal tip, a high arched palate, bilateral small cerebellar hemispheres, vermis hypoplasia, a large cisterna magna, and an atrial septal defect and a duodenal stenosis in one case. These features are part of the 3C syndrome. The duodenal stenosis present in one of our sibs has not been reported before in this syndrome.
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