Familial fatal fetal cardiomyopathy with isolated myocardial calcifications: a new syndrome?

We describe three male sib fetuses with isolated myocardial calcifications resulting in intrauterine fetal death (IUFD) as early as the second trimester. No evidence for an underlying mitochondrial cytopathy, dystrophinopathy or myopathy was found. There were no signs of inflammation or a metabolic disorder, and the mother had no prenatal exposure of teratogenic drugs.

[Hypomelanosis Ito in translocation trisomy 9/mosaicism (46,XX/46,XX,t(9;9)(p24;p24)). Spontaneous remission in childhood].

A 4 5/12 years old girl with hypomelanosis of Ito (HI) presented on the 3rd day of life with hypopigmented streaks and whorls following the lines of Blaschko on the back, the arms and the legs. In addition, patchy depigmented areas were present on the trunk. Extracutaneous manifestations included dystopia of the right kidney, atrial septal defect, persistent ductus arteriosus, hearing impairment, EEG abnormalities, and asymmetric dilatation of the ventricle system and a vermal atrophy as documented in the MRT of the brain.