TY - JOUR
T1 - 3C (cranio-cerebello-cardiac) syndrome
T2 - A recently delineated and easily recognizable congenital malformation syndrome
AU - Hoo, J. J.
AU - Kreiter, M.
AU - Halverson, N.
AU - Perszyk, A.
PY - 1994
Y1 - 1994
N2 - We report on two cases of 3C (cranio-cerebello-cardiac) syndrome. At least five previous cases are known. This recently delineated malformation syndrome is characterized by congenital anomalies of the skull, hindbrain, and heart. The anomalies include a high and prominent forehead, a hypoplastic vermis and posterior fossa cyst with or without hydrocephalus, and an atrial or atrio- ventricular septal defect with or without other heart anomalies. Most patients show a postnatal growth retardation, as well as a mild to moderate psychomotor retardation. Early death is usually in association with severe congenital heart defect. Aside from two affected sisters, the other reported cases (four girls and one boy) are sporadic cases; thus, a possible genetic nature and inheritance mode remain uncertain. Nonetheless, the possibility of an autosomal recessive mode of inheritance should be considered in the genetic counselling.
AB - We report on two cases of 3C (cranio-cerebello-cardiac) syndrome. At least five previous cases are known. This recently delineated malformation syndrome is characterized by congenital anomalies of the skull, hindbrain, and heart. The anomalies include a high and prominent forehead, a hypoplastic vermis and posterior fossa cyst with or without hydrocephalus, and an atrial or atrio- ventricular septal defect with or without other heart anomalies. Most patients show a postnatal growth retardation, as well as a mild to moderate psychomotor retardation. Early death is usually in association with severe congenital heart defect. Aside from two affected sisters, the other reported cases (four girls and one boy) are sporadic cases; thus, a possible genetic nature and inheritance mode remain uncertain. Nonetheless, the possibility of an autosomal recessive mode of inheritance should be considered in the genetic counselling.
KW - 3C syndrome
KW - Dandy-Walker malformation
KW - Dandy-Walker variant
KW - cranio-cerebello-cardiac syndrome
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U2 - 10.1002/ajmg.1320520113
DO - 10.1002/ajmg.1320520113
M3 - Article
C2 - 7977465
AN - SCOPUS:0028023704
SN - 0148-7299
VL - 52
SP - 66
EP - 69
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 1
ER -