Sanjad-sakati syndrome: a rare autosomal recessive disorder of congenital hypoparathyroidism-microcephaly-mental retardation-seizures-growth retardation and dysmorphism

ABSTRACT

Three families with seven patients [three males and four females] represented by repeated attacks of seizures and hospitalized in Taef Children Hospital. These patients were en over a period of 9 months. All patients shared most of the typical dysmorphic features of Sanjad-Sakati syndrome as microcephaly, deep set eyes, beaked nose, micrognathia, abnormal ear malformations, short stature and small hands d feet. In addition to the previous features, hypoparathyroidism was diagnosed by laboratory investigations and showed low calcium concentration, high phosphorus level and low immuno-reactive parathyroid hormone level. All the patients bad normal karyotype. Accurate and proper clinical examination was of great importance to differentiate this syndrome from another similar syndrome known as Kenny-Caffey syndrome which has the same homozygous deletion in TBCE gene. We recommended molecular study for all the patients and their parents which confirms the diagnosis and gives great help in genetic counseling