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

      Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ
      Abnormalities, Multiple, epidemiology, genetics, Chromosome Deletion, Consanguinity, Cytogenetic Analysis, Fetal Growth Retardation, Genes, Recessive, Heterozygote, Homozygote, Humans, Hypocalcemia, Hypoparathyroidism, In Situ Hybridization, Fluorescence, Infant, Newborn, Intellectual Disability, Kuwait, Microcephaly, Molecular Chaperones, Mutation, Polymerase Chain Reaction, Polymorphism, Single-Stranded Conformational, Syndrome

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          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.

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