Sanjad-Sakati Syndrome
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- Category: Vol. 77, September 2009
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Sanjad-Sakati Syndrome: A Rare Autosomal Recessive Disorder of Congenital Hypoparathyroidism- Microcephaly-Mental Retardation-Seizures-Growth Retardation and Dysmorphism, RANDA I. BASSUNI and AHMAD I.S. EL-KOTOURY
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 seen 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 and feet. In addition to the previous features, hypoparathy-roidism was diagnosed by laboratory investigations and showed low calcium concentration, high phosphorus level and low immuno-reactive parathyroid hormone level. All the patients had normal karyotype. Accurate and proper clinical examina-tion 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.