Sanjad Sakati syndrome [HRD syndrome]

ABSTRACT

We are reporting two cases with HRD or Sanjad Sakati syndrome from European Gaza Hospital in southern region of Gaza strip - Palestine. They are one boy and one girl from two different families and their parents are consanguineous giving evidence of autosomal recessive inheritance pattern. Both cases are presented with severe hypocalcemic seizures, severe growth retardation and dysmorphic features. Both of them have low parathyroid hormone and renal nephrocalcinosis. None of them has significant cardiac lesion or medullary stenosis in the long bones. Genetic test was not done in both of them because lack of facilities