Author/Authors :
Naguib, K.K. Ministry of Health - Adan Hospital - Kuwait Medical Genetic Centre, Kuwait , Gouda, S.A. Ministry of Health - Adan Hospital - Kuwait Medical Genetic Centre , Elshafey, A. Ministry of Health - Adan Hospital - Kuwait Medical Genetic Centre, Kuwait , Mohammed, F. Kuwait University - Department of Medical Laboratory Sciences, Kuwait , Bastaki, L. Ministry of Health - Adan Hospital - Kuwait Medical Genetic Centre, Kuwait , Azab, A.S. Ministry of Health - Adan Hospital - Department of Paediatrics, Kuwait , Alawadi, S.A. Ministry of Health - Adan Hospital - Kuwait Medical Genetic Centre, Kuwait
Abstract :
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.
