Does the cranio-cerebello-cardiac syndrome (3C syndrome) include abdominal malformations?
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.
Mégarbané
A
A
Haddad
J
J
D000015:Abnormalities, Multiple; D002531:Cerebellum / Q000002:abnormalities*; D002675:Child, Preschool; D002658:Developmental Disabilities; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D008297:Male; D011597:Psychomotor Performance; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome