Sanjad-sakati syndrome in Omani children

Sanjad Sakati Syndrome is an Autosomal Recessive disorder found exclusively in people of Arabian origin. It was first reported from the Kingdom of Saudi Arabia in 1988. This is a report of a family with this rare disease in Oman. The syndrome comprises of congenital hypoparathyroidism, severe growth retardation, low IQ and typical facial features. Supportive treatment in the form of vitamin D and growth hormone is often offered to these children

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

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

Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait

We studied 21 patients with Sanjad-Sakati syndrome [SSS] from 16 families. Parental consanguinity was recorded in 2 families [12.5%]. All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp [155-166del] in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers

Sanjad Sakati syndrome [HRD syndrome]

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

Pseudohipoparatiroidismo Tipo I

El pseudohipoparatiroidismo es una entidad infrecuente y heterogénea causada por la pérdida heterocigótica de aproximadamente el 50 por ciento de la proteína Gs alfa, caracterizada por losvalores séricos de calcio bajos, grados de fosfatemia variable elevada y resistencia variable de la PTH, con hallazgos clínicos dismórficos y en algunos casos (tipo I) asociado a retardo mental. La alteración descrita es el resultado de la disfunción de la proteína Gs alfa miembro de la superfamilia de proteínas heterotriméricas transductoras de señales intracelulares estimuladoras de la adenil ciclasa intracelular. Se revisan dos casos con el tipo pseudohipo-hiperparatiroidismo y uno de tipo I.